UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5253289G>A | CA472633091 | HBG2 | c.432C>T (p.Ser144=) c.267C>T (p.Ser89=) c.315+1003C>T (n.315+1003C>T) c.378+54C>T (n.378+54C>T) c.402C>T (p.Ser134=) | dbSNP gnomAD v4 |
| 11 | g.5253289G>C | CA472633092 | HBG2 | c.432C>G (p.Ser144=) c.267C>G (p.Ser89=) c.315+1003C>G (n.315+1003C>G) c.378+54C>G (n.378+54C>G) c.402C>G (p.Ser134=) | |
| 11 | g.5253289G= | CA1949575335 | HBG2 | c.432C= (p.Ser144=) c.267C= (p.Ser89=) c.315+1003C= (n.315+1003C=) c.378+54C= (n.378+54C=) c.402C= (p.Ser134=) | |
| 11 | g.5253289G>T | CA472633093 | HBG2 | c.432C>A (p.Ser144=) c.267C>A (p.Ser89=) c.315+1003C>A (n.315+1003C>A) c.378+54C>A (n.378+54C>A) c.402C>A (p.Ser134=) | |
| 11 | g.5253290G>A | CA379263480 | HBG2 | c.431C>T (p.Ser144Phe) c.266C>T (p.Ser89Phe) c.315+1002C>T (n.315+1002C>T) c.378+53C>T (n.378+53C>T) c.401C>T (p.Ser134Phe) | dbSNP |
| 11 | g.5253290G>C | CA379263482 | HBG2 | c.431C>G (p.Ser144Cys) c.266C>G (p.Ser89Cys) c.315+1002C>G (n.315+1002C>G) c.378+53C>G (n.378+53C>G) c.401C>G (p.Ser134Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5253290G= | CA1949575338 | HBG2 | c.431C= (p.Ser144=) c.266C= (p.Ser89=) c.315+1002C= (n.315+1002C=) c.378+53C= (n.378+53C=) c.401C= (p.Ser134=) | |
| 11 | g.5253290G>T | CA379263481 | HBG2 | c.431C>A (p.Ser144Tyr) c.266C>A (p.Ser89Tyr) c.315+1002C>A (n.315+1002C>A) c.378+53C>A (n.378+53C>A) c.401C>A (p.Ser134Tyr) | |
| 11 | g.5253291A>C | CA379263483 | HBG2 | c.430T>G (p.Ser144Ala) c.265T>G (p.Ser89Ala) c.315+1001T>G (n.315+1001T>G) c.378+52T>G (n.378+52T>G) c.400T>G (p.Ser134Ala) | |
| 11 | g.5253291A>G | CA379263484 | HBG2 | c.430T>C (p.Ser144Pro) c.265T>C (p.Ser89Pro) c.315+1001T>C (n.315+1001T>C) c.378+52T>C (n.378+52T>C) c.400T>C (p.Ser134Pro) | |
| 11 | g.5253291A>T | CA379263485 | HBG2 | c.430T>A (p.Ser144Thr) c.265T>A (p.Ser89Thr) c.315+1001T>A (n.315+1001T>A) c.378+52T>A (n.378+52T>A) c.400T>A (p.Ser134Thr) | |
| 11 | g.5253292G>A | CA5840199 | HBG2 | c.429C>T (p.Ser143=) c.264C>T (p.Ser88=) c.315+1000C>T (n.315+1000C>T) c.378+51C>T (n.378+51C>T) c.399C>T (p.Ser133=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5253292G>C | CA472633094 | HBG2 | c.429C>G (p.Ser143=) c.264C>G (p.Ser88=) c.315+1000C>G (n.315+1000C>G) c.378+51C>G (n.378+51C>G) c.399C>G (p.Ser133=) | |
| 11 | g.5253292G= | CA1949575349 | HBG2 | c.429C= (p.Ser143=) c.264C= (p.Ser88=) c.315+1000C= (n.315+1000C=) c.378+51C= (n.378+51C=) c.399C= (p.Ser133=) | |
| 11 | g.5253292G>T | CA472633095 | HBG2 | c.429C>A (p.Ser143=) c.264C>A (p.Ser88=) c.315+1000C>A (n.315+1000C>A) c.378+51C>A (n.378+51C>A) c.399C>A (p.Ser133=) | |
| 11 | g.5253293G>A | CA379263486 | HBG2 | c.428C>T (p.Ser143Phe) c.263C>T (p.Ser88Phe) c.315+999C>T (n.315+999C>T) c.378+50C>T (n.378+50C>T) c.398C>T (p.Ser133Phe) | |
| 11 | g.5253293G>C | CA379263487 | HBG2 | c.428C>G (p.Ser143Cys) c.263C>G (p.Ser88Cys) c.315+999C>G (n.315+999C>G) c.378+50C>G (n.378+50C>G) c.398C>G (p.Ser133Cys) | |
| 11 | g.5253293G>T | CA379263488 | HBG2 | c.428C>A (p.Ser143Tyr) c.263C>A (p.Ser88Tyr) c.315+999C>A (n.315+999C>A) c.378+50C>A (n.378+50C>A) c.398C>A (p.Ser133Tyr) | |
| 11 | g.5253294A>C | CA379263489 | HBG2 | c.427T>G (p.Ser143Ala) c.262T>G (p.Ser88Ala) c.315+998T>G (n.315+998T>G) c.378+49T>G (n.378+49T>G) c.397T>G (p.Ser133Ala) | |
| 11 | g.5253294A>G | CA379263490 | HBG2 | c.427T>C (p.Ser143Pro) c.262T>C (p.Ser88Pro) c.315+998T>C (n.315+998T>C) c.378+49T>C (n.378+49T>C) c.397T>C (p.Ser133Pro) | |
| 11 | g.5253294A>T | CA379263491 | HBG2 | c.427T>A (p.Ser143Thr) c.262T>A (p.Ser88Thr) c.315+998T>A (n.315+998T>A) c.378+49T>A (n.378+49T>A) c.397T>A (p.Ser133Thr) | |
| 11 | g.5253295C>A | CA472633096 | HBG2 | c.426G>T (p.Leu142=) c.261G>T (p.Leu87=) c.315+997G>T (n.315+997G>T) c.378+48G>T (n.378+48G>T) c.396G>T (p.Leu132=) | |
| 11 | g.5253295C>G | CA472633097 | HBG2 | c.426G>C (p.Leu142=) c.261G>C (p.Leu87=) c.315+997G>C (n.315+997G>C) c.378+48G>C (n.378+48G>C) c.396G>C (p.Leu132=) | |
| 11 | g.5253295C>T | CA472633098 | HBG2 | c.426G>A (p.Leu142=) c.261G>A (p.Leu87=) c.315+997G>A (n.315+997G>A) c.378+48G>A (n.378+48G>A) c.396G>A (p.Leu132=) | |
| 11 | g.5253296A>C | CA379263493 | HBG2 | c.425T>G (p.Leu142Arg) c.260T>G (p.Leu87Arg) c.315+996T>G (n.315+996T>G) c.378+47T>G (n.378+47T>G) c.395T>G (p.Leu132Arg) | |
| 11 | g.5253296A>G | CA379263494 | HBG2 | c.425T>C (p.Leu142Pro) c.260T>C (p.Leu87Pro) c.315+996T>C (n.315+996T>C) c.378+47T>C (n.378+47T>C) c.395T>C (p.Leu132Pro) | |
| 11 | g.5253296A>T | CA379263492 | HBG2 | c.425T>A (p.Leu142Gln) c.260T>A (p.Leu87Gln) c.315+996T>A (n.315+996T>A) c.378+47T>A (n.378+47T>A) c.395T>A (p.Leu132Gln) | |
| 11 | g.5253297G>A | CA472633099 | HBG2 | c.424C>T (p.Leu142=) c.259C>T (p.Leu87=) c.315+995C>T (n.315+995C>T) c.378+46C>T (n.378+46C>T) c.394C>T (p.Leu132=) | |
| 11 | g.5253297G>C | CA379263495 | HBG2 | c.424C>G (p.Leu142Val) c.259C>G (p.Leu87Val) c.315+995C>G (n.315+995C>G) c.378+46C>G (n.378+46C>G) c.394C>G (p.Leu132Val) | |
| 11 | g.5253297G>T | CA379263496 | HBG2 | c.424C>A (p.Leu142Met) c.259C>A (p.Leu87Met) c.315+995C>A (n.315+995C>A) c.378+46C>A (n.378+46C>A) c.394C>A (p.Leu132Met) | |
| 11 | g.5253298G>A | CA472633101 | HBG2 | c.423C>T (p.Ala141=) c.258C>T (p.Ala86=) c.315+994C>T (n.315+994C>T) c.378+45C>T (n.378+45C>T) c.393C>T (p.Ala131=) | |
| 11 | g.5253298G>C | CA472633102 | HBG2 | c.423C>G (p.Ala141=) c.258C>G (p.Ala86=) c.315+994C>G (n.315+994C>G) c.378+45C>G (n.378+45C>G) c.393C>G (p.Ala131=) | |
| 11 | g.5253298G>T | CA472633100 | HBG2 | c.423C>A (p.Ala141=) c.258C>A (p.Ala86=) c.315+994C>A (n.315+994C>A) c.378+45C>A (n.378+45C>A) c.393C>A (p.Ala131=) | |
| 11 | g.5253299G>A | CA379263498 | HBG2 | c.422C>T (p.Ala141Val) c.257C>T (p.Ala86Val) c.315+993C>T (n.315+993C>T) c.378+44C>T (n.378+44C>T) c.392C>T (p.Ala131Val) | dbSNP |
| 11 | g.5253299G>C | CA379263499 | HBG2 | c.422C>G (p.Ala141Gly) c.257C>G (p.Ala86Gly) c.315+993C>G (n.315+993C>G) c.378+44C>G (n.378+44C>G) c.392C>G (p.Ala131Gly) | dbSNP |
| 11 | g.5253299G= | CA1949575356 | HBG2 | c.422C= (p.Ala141=) c.257C= (p.Ala86=) c.315+993C= (n.315+993C=) c.378+44C= (n.378+44C=) c.392C= (p.Ala131=) | |
| 11 | g.5253299G>T | CA5840200 | HBG2 | c.422C>A (p.Ala141Asp) c.257C>A (p.Ala86Asp) c.315+993C>A (n.315+993C>A) c.378+44C>A (n.378+44C>A) c.392C>A (p.Ala131Asp) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.5253300C>A | CA379263500 | HBG2 | c.421G>T (p.Ala141Ser) c.256G>T (p.Ala86Ser) c.315+992G>T (n.315+992G>T) c.378+43G>T (n.378+43G>T) c.391G>T (p.Ala131Ser) | |
| 11 | g.5253300C>G | CA379263501 | HBG2 | c.421G>C (p.Ala141Pro) c.256G>C (p.Ala86Pro) c.315+992G>C (n.315+992G>C) c.378+43G>C (n.378+43G>C) c.391G>C (p.Ala131Pro) | |
| 11 | g.5253300C>T | CA379263502 | HBG2 | c.421G>A (p.Ala141Thr) c.256G>A (p.Ala86Thr) c.315+992G>A (n.315+992G>A) c.378+43G>A (n.378+43G>A) c.391G>A (p.Ala131Thr) | COSMIC |
| 11 | g.5253301A= | CA1949575363 | HBG2 | c.420T= (p.Ser140=) c.255T= (p.Ser85=) c.315+991T= (n.315+991T=) c.378+42T= (n.378+42T=) c.390T= (p.Ser130=) | |
| 11 | g.5253301A>C | CA379263503 | HBG2 | c.420T>G (p.Ser140Arg) c.255T>G (p.Ser85Arg) c.315+991T>G (n.315+991T>G) c.378+42T>G (n.378+42T>G) c.390T>G (p.Ser130Arg) | |
| 11 | g.5253301A>G | CA472633103 | HBG2 | c.420T>C (p.Ser140=) c.255T>C (p.Ser85=) c.315+991T>C (n.315+991T>C) c.378+42T>C (n.378+42T>C) c.390T>C (p.Ser130=) | dbSNP |
| 11 | g.5253301A>T | CA379263504 | HBG2 | c.420T>A (p.Ser140Arg) c.255T>A (p.Ser85Arg) c.315+991T>A (n.315+991T>A) c.378+42T>A (n.378+42T>A) c.390T>A (p.Ser130Arg) | |
| 11 | g.5253302C>A | CA379263505 | HBG2 | c.419G>T (p.Ser140Ile) c.254G>T (p.Ser85Ile) c.315+990G>T (n.315+990G>T) c.378+41G>T (n.378+41G>T) c.389G>T (p.Ser130Ile) | |
| 11 | g.5253302C= | CA1949575369 | HBG2 | c.419G= (p.Ser140=) c.254G= (p.Ser85=) c.315+990G= (n.315+990G=) c.378+41G= (n.378+41G=) c.389G= (p.Ser130=) | |
| 11 | g.5253302C>G | CA379263506 | HBG2 | c.419G>C (p.Ser140Thr) c.254G>C (p.Ser85Thr) c.315+990G>C (n.315+990G>C) c.378+41G>C (n.378+41G>C) c.389G>C (p.Ser130Thr) | |
| 11 | g.5253302C>T | CA379263507 | HBG2 | c.419G>A (p.Ser140Asn) c.254G>A (p.Ser85Asn) c.315+990G>A (n.315+990G>A) c.378+41G>A (n.378+41G>A) c.389G>A (p.Ser130Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5253303T>A | CA379263510 | HBG2 | c.418A>T (p.Ser140Cys) c.253A>T (p.Ser85Cys) c.315+989A>T (n.315+989A>T) c.378+40A>T (n.378+40A>T) c.388A>T (p.Ser130Cys) | |
| 11 | g.5253303T>C | CA379263509 | HBG2 | c.418A>G (p.Ser140Gly) c.253A>G (p.Ser85Gly) c.315+989A>G (n.315+989A>G) c.378+40A>G (n.378+40A>G) c.388A>G (p.Ser130Gly) | dbSNP gnomAD v4 |