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LOVD - Variant listings for HBA2

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452 entries
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Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Re-site Hide Re-site column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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HbVar link Hide HbVar link column Descending
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1 HBA2:c.-24C>G - - - - HBA2_01842 HbVar
1 HBA2:c.-59C>T - - - - HBA2_01898 HbVar
1 HBA2:c.-81C>A - - - - HBA2_01900 HbVar
1 HBA2:c.-91G>A - - - - HBA2_01906 HbVar
1 HBA2:c.10T>C - p.Ser4Pro - - HBA2_01577 HbVar
1 HBA2:c.11C>A
  (Reported 2 times)		 - p.Ser4Tyr - - HBA2_01998 -
1 HBA2:c.11C>G - p.Ser4Cys - - HBA2_01704 HbVar
1 HBA2:c.14C>A - p.Pro5His - - HBA2_00543 HbVar
1 HBA2:c.14C>G - p.Pro5Arg - - HBA2_01583 HbVar
1 HBA2:c.16G>C - p.Ala6Pro - - HBA2_00263 HbVar
1 HBA2:c.17C>A - p.Ala6Asp - - HBA2_00262 HbVar
1 HBA2:c.19G>A - p.Asp7Asn - - HBA2_00265 HbVar
1 HBA2:c.19G>C - p.Asp7His - - HBA2_00551 HbVar
1 HBA2:c.19G>T - p.Asp7Tyr - - HBA2_00267 HbVar
1 HBA2:c.19_21delGAC - - - - HBA2_00469 HbVar
1 HBA2:c.1A>G
  (Reported 2 times)		 - - - - HBA2_00492 HbVar
1 HBA2:c.20A>C - p.Asp7Ala - - HBA2_00264 HbVar
1 HBA2:c.20A>G - p.Asp7Gly - - HBA2_00268 HbVar
1 HBA2:c.20A>T - p.Asp7Val - - HBA2_00266 HbVar
1 HBA2:c.22A>C - p.Lys8Gln - - HBA2_01710 HbVar
1 HBA2:c.22A>G - p.Lys8Glu - - HBA2_00270 HbVar
1 HBA2:c.22A>T - p.Lys8Stop - - HBA2_01819 HbVar
1 HBA2:c.23A>C - p.Lys8Thr - - HBA2_01711 HbVar
1 HBA2:c.23A>G - p.Lys8Arg - - HBA2_00561 HbVar
1 HBA2:c.24G>C - p.Lys8Asn - - HBA2_00269 HbVar
1 HBA2:c.27delC - - - - HBA2_01765 HbVar
1 HBA2:c.29A>C - p.Asn10Thr - - HBA2_00527 HbVar
1 HBA2:c.29A>G - p.Asn10Ser - - HBA2_00506 HbVar
1 HBA2:c.2delT - - - - HBA2_00494 HbVar
1 HBA2:c.2T>C - p.Met1Thr - - HBA2_00493 HbVar
1 HBA2:c.2T>G - p.Met1Arg - - HBA2_01786 HbVar
1 HBA2:c.30C>A
  (Reported 2 times)		 - p.Asn10Lys - - HBA2_02042 -
1 HBA2:c.30C>G - p.Asn10Lys - - HBA2_00482 HbVar
1 HBA2:c.34A>C - p.Lys12Gln - - HBA2_00272 HbVar
1 HBA2:c.34A>G - p.Lys12Glu - - HBA2_02154 -
1 HBA2:c.38C>A - p.Ala13Asp - - HBA2_00274 HbVar
1 HBA2:c.3G>T
  (Reported 2 times)		 - p.Met1Ile - - HBA2_02017 -
1 HBA2:c.40G>C - p.Ala14Pro - - HBA2_00528 HbVar
1 HBA2:c.40G>T - p.Ala14Ser - - HBA2_02156 -
1 HBA2:c.40_45delGCCTGG - - - - HBA2_01847 HbVar
1 HBA2:c.41C>A - p.Ala14Asp - - HBA2_01901 HbVar
1 HBA2:c.44G>C - p.Trp15Ser - - HBA2_02157 -
1 HBA2:c.44G>T - p.Trp15Leu - - HBA2_01641 HbVar
1 HBA2:c.45G>A - p.Trp15Stop - - HBA2_01849 HbVar
1 HBA2:c.45G>C - p.Trp15Cys - - HBA2_00552 HbVar
1 HBA2:c.46G>C - p.Gly16Arg - - HBA2_00276 HbVar
1 HBA2:c.46G>T - p.Gly16Cys - - HBA2_02158 -
1 HBA2:c.49A>G - p.Lys17Glu - - HBA2_00277 HbVar
1 HBA2:c.4delG - - - - HBA2_02273 -
1 HBA2:c.4G>A - p.Val2Met - - HBA2_00550 HbVar
1 HBA2:c.4G>C - p.Val2Leu - - HBA2_00559 HbVar
1 HBA2:c.50A>C - p.Lys17Thr - - HBA2_00523 HbVar
1 HBA2:c.50A>T - p.Lys17Met - - HBA2_00279 HbVar
1 HBA2:c.52G>T
  (Reported 2 times)		 - p.Val18Phe - - HBA2_01978 -
1 HBA2:c.53T>A - p.Val18Asp - - HBA2_01902 HbVar
1 HBA2:c.55G>C - p.Gly19Arg - - HBA2_00280 HbVar
1 HBA2:c.56delG - - - - HBA2_00537 HbVar
1 HBA2:c.56G>A - p.Gly19Asp - - HBA2_00281 HbVar
1 HBA2:c.59C>A - p.Ala20Glu - - HBA2_00283 HbVar
1 HBA2:c.5T>A - p.Val2Glu - - HBA2_00468 HbVar
1 HBA2:c.5T>C - p.Val2Ala - - HBA2_00504 HbVar
1 HBA2:c.5T>G - p.Val2Gly - - HBA2_00260 HbVar
1 HBA2:c.60delG - - - - HBA2_01808 HbVar
1 HBA2:c.61C>G - p.His21Asp - - HBA2_00480 HbVar
1 HBA2:c.61C>T - p.His21Tyr - - HBA2_00284 HbVar
1 HBA2:c.62A>C - p.His21Pro - - HBA2_00479 HbVar
1 HBA2:c.62A>G - p.His21Arg - - HBA2_00286 HbVar
1 HBA2:c.63C>A - p.His21Gln - - HBA2_00285 HbVar
1 HBA2:c.64G>C - p.Ala22Pro - - HBA2_00288 HbVar
1 HBA2:c.64G>T - p.Ala22Ser - - HBA2_00560 HbVar
1 HBA2:c.65C>A - p.Ala22Asp - - HBA2_00287 HbVar
1 HBA2:c.65C>T - p.Ala22Val - - HBA2_01643 HbVar
1 HBA2:c.66_67insT - - - - HBA2_01634 HbVar
1 HBA2:c.68G>A - p.Gly23Asp - - HBA2_00289 HbVar
1 HBA2:c.69C>T - p.Gly23Gly - - HBA2_00536 HbVar
1 HBA2:c.69_77delCGAGTATGG - - - - HBA2_01752 HbVar
1 HBA2:c.70G>A - p.Glu24Lys - - HBA2_00291 HbVar
1 HBA2:c.70G>C - p.Glu24Gln - - HBA2_00290 HbVar
1 HBA2:c.70G>T - p.Glu24Stop - - HBA2_00540 HbVar
1 HBA2:c.71A>C - p.Glu24Ala - - HBA2_01692 HbVar
1 HBA2:c.71A>G - p.Glu24Gly - - HBA2_00293 HbVar
1 HBA2:c.71A>T - p.Glu24Val - - HBA2_00292 HbVar
1 HBA2:c.72G>T - p.Glu24Asp - - HBA2_00294 HbVar
1 HBA2:c.73T>C - p.Tyr25His - - HBA2_00295 HbVar
1 HBA2:c.73T>G - p.Tyr25Asp - - HBA2_00535 HbVar
1 HBA2:c.75T>G - p.Tyr25Stop - - HBA2_01646 HbVar
1 HBA2:c.77G>A
  (Reported 2 times)		 - p.Gly26Asp - - HBA2_01979 -
1 HBA2:c.79G>A - p.Ala27Thr - - HBA2_00297 HbVar
1 HBA2:c.80C>A - p.Ala27Glu - - HBA2_00296 HbVar
1 HBA2:c.80C>T - p.Ala27Val - - HBA2_00475 HbVar
1 HBA2:c.82G>A - p.Glu28Lys - - HBA2_00300 HbVar
1 HBA2:c.83A>C - p.Glu28Ala - - HBA2_00529 HbVar
1 HBA2:c.83A>G - p.Glu28Gly - - HBA2_00298 HbVar
1 HBA2:c.83A>T - p.Glu28Val - - HBA2_00299 HbVar
1 HBA2:c.84G>C - p.Glu28Asp - - HBA2_00301 HbVar
1 HBA2:c.89T>C - p.Leu30Pro - - HBA2_00302 HbVar
1 HBA2:c.8T>C - p.Leu3Pro - - HBA2_01648 HbVar
1 HBA2:c.8T>G - p.Leu3Arg - - HBA2_00261 HbVar
1 HBA2:c.91G>A - p.Glu31Lys - - HBA2_00303 HbVar
1 HBA2:c.91G>C - p.Glu31Gln - - HBA2_00304 HbVar
1 - 100
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Legend: [ HBA2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. HBA2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link

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