LOVD - Variant listings for HBG2

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77 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

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 HBG2:c.-163A>C - - - - HBG2_00617 HbVar
1 HBG2:c.-167C>A - - - - HBG2_00620 HbVar
1 HBG2:c.-167C>G - - - - HBG2_00615 HbVar
1 HBG2:c.-167C>T - - - - HBG2_00616 HbVar
1 HBG2:c.-228T>C - - - - HBG2_00614 HbVar
1 HBG2:c.-250C>T - - - - HBG2_01650 HbVar
1 HBG2:c.-255C>G - - - - HBG2_00613 HbVar
1 HBG2:c.17A>G - p.Glu6Gly - - HBG2_00569 HbVar
1 HBG2:c.19G>A - p.Glu7Lys - - HBG2_00607 HbVar
1 HBG2:c.22G>A - p.Asp8Asn - - HBG2_00570 HbVar
1 HBG2:c.38C>A - p.Thr13Lys - - HBG2_00608 HbVar
1 HBG2:c.38C>G - p.Thr13Arg - - HBG2_00572 HbVar
1 HBG2:c.42C>A - p.Ser14Arg - - HBG2_02082 -
1 HBG2:c.46T>C - p.Trp16Arg - - HBG2_00573 HbVar
1 HBG2:c.49G>C - p.Gly17Arg - - HBG2_00574 HbVar
1 HBG2:c.4G>A - p.Gly2Ser - - HBG2_01771 HbVar
1 HBG2:c.4G>T - p.Gly2Cys - - HBG2_00568 HbVar
1 HBG2:c.5G>A - p.Gly2Asp - - HBG2_01988 -
1 HBG2:c.62T>C - p.Val21Ala - - HBG2_00621 HbVar
1 HBG2:c.64G>A - p.Glu22Lys - - HBG2_00576 HbVar
1 HBG2:c.64G>C - p.Glu22Gln - - HBG2_00575 HbVar
1 HBG2:c.68A>G - p.Asp23Gly - - HBG2_00577 HbVar
1 HBG2:c.68A>T - p.Asp23Val - - HBG2_00578 HbVar
1 HBG2:c.74G>A - p.Gly25Glu - - HBG2_02089 -
1 HBG2:c.77G>A - p.Gly26Glu - - HBG2_00579 HbVar
1 HBG2:c.79G>A - p.Glu27Lys - - HBG2_00580 HbVar
1 HBG2:c.85C>A - p.Leu29Met - - HBG2_02000 -
1 HBG2:c.[25A>C or 25A>G] - p.Lys9Glu - - HBG2_00571 HbVar
1 HBG2:c.[54G>C or 54G>T] - p.Lys18Asn - - HBG2_00611 HbVar
1 HBG2:c.[60T>A or 60T>G] - p.Asn20Lys - - HBG2_00610 HbVar
2 HBG2:c.103G>A - p.Val35Ile - - HBG2_00581 HbVar
2 HBG2:c.112T>G - p.Trp38Gly - - HBG2_01833 HbVar
2 HBG2:c.115A>C - p.Thr39Pro - - HBG2_00619 HbVar
2 HBG2:c.121A>G - p.Arg41Gly - - HBG2_00583 HbVar
2 HBG2:c.122G>A - p.Arg41Lys - - HBG2_00582 HbVar
2 HBG2:c.124T>C - p.Phe42Leu - - HBG2_01832 HbVar
2 HBG2:c.125T>C - p.Phe42Ser - - HBG2_00584 HbVar
2 HBG2:c.133A>C - p.Ser45Arg - - HBG2_00585 HbVar
2 HBG2:c.167T>G - p.Met56Arg - - HBG2_00586 HbVar
2 HBG2:c.178A>C - p.Lys60Gln - - HBG2_00587 HbVar
2 HBG2:c.178A>G - p.Lys60Glu - - HBG2_00588 HbVar
2 HBG2:c.179A>G - p.Lys60Arg - - HBG2_01989 -
2 HBG2:c.190C>T - p.His64Tyr - - HBG2_00589 HbVar
2 HBG2:c.191A>T - p.His64Leu - - HBG2_02012 -
2 HBG2:c.194G>A - p.Gly65Asp - - HBG2_01824 HbVar
2 HBG2:c.199A>C - p.Lys67Gln - - HBG2_00592 HbVar
2 HBG2:c.200A>G - p.Lys67Arg - - HBG2_00591 HbVar
2 HBG2:c.202G>A - p.Val68Met - - HBG2_01845 HbVar
2 HBG2:c.217G>C - p.Gly73Arg - - HBG2_00593 HbVar
2 HBG2:c.226A>G - p.Ile76Val - - HBG2_00618 HbVar
2 HBG2:c.227T>C - p.Ile76Thr - - HBG2_00594 HbVar
2 HBG2:c.233A>G - p.His78Arg - - HBG2_00595 HbVar
2 HBG2:c.238G>C - p.Asp80His - - HBG2_00623 HbVar
2 HBG2:c.239A>G - p.Asp80Gly - - HBG2_02090 -
2 HBG2:c.241G>A - p.Asp81Asn - - HBG2_00596 HbVar
2 HBG2:c.241G>T - p.Asp81Tyr - - HBG2_01713 HbVar
2 HBG2:c.269G>A - p.Ser90Asn - - HBG2_02036 -
2 HBG2:c.277C>T - p.His93Tyr - - HBG2_00597 HbVar
2 HBG2:c.280T>C - p.Cys94Arg - - HBG2_01726 HbVar
2 HBG2:c.283G>A - p.Asp95Asn - - HBG2_00598 HbVar
2 HBG2:c.293A>G - p.His98Arg - - HBG2_00622 HbVar
2 HBG2:c.304G>A - p.Glu102Lys - - HBG2_00599 HbVar
2 HBG2:c.304G>C - p.Glu102Gln - - HBG2_01588 HbVar
2 HBG2:c.308A>C - p.Asn103Thr - - HBG2_00624 HbVar
2 HBG2:c.315G>C - p.Lys105Asn - - HBG2_00600 HbVar
2 HBG2:c.[198G>T or 198G>C] - p.Lys66Asn - - HBG2_00590 HbVar
3 HBG2:c.317T>A - p.Leu106His - - HBG2_01785 HbVar
3 HBG2:c.327T>A - p.Asn109Lys - - HBG2_00609 HbVar
3 HBG2:c.353A>G - p.His118Arg - - HBG2_00601 HbVar
3 HBG2:c.355T>C - p.Phe119Leu - - HBG2_00612 HbVar
3 HBG2:c.361A>C - p.Lys121Gln - - HBG2_00602 HbVar
3 HBG2:c.364G>A - p.Glu122Lys - - HBG2_00603 HbVar
3 HBG2:c.377A>C - p.Glu126Ala - - HBG2_00604 HbVar
3 HBG2:c.391T>G - p.Trp131Gly - - HBG2_00605 HbVar
3 HBG2:c.410G>A - p.Gly137Glu - - HBG2_01772 HbVar
3 HBG2:c.439C>T - p.His147Tyr - - HBG2_00606 HbVar
3 HBG2:c.440A>G - p.His147Arg - - HBG2_01725 HbVar
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Legend: [ HBG2 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. HBG2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link