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 |
|---|---|---|---|---|---|
| 2 | g.214978841A>C | CA350459610 | ABCA12 | c.4940T>G (p.Ile1647Ser) c.3986T>G (p.Ile1329Ser) n.5240T>G c.4949T>G (p.Ile1650Ser) n.5438T>G | COSMIC |
| 2 | g.214978841A>G | CA350459612 | ABCA12 | c.4940T>C (p.Ile1647Thr) c.3986T>C (p.Ile1329Thr) n.5240T>C c.4949T>C (p.Ile1650Thr) n.5438T>C | |
| 2 | g.214978841A>T | CA350459614 | ABCA12 | c.4940T>A (p.Ile1647Asn) c.3986T>A (p.Ile1329Asn) n.5240T>A c.4949T>A (p.Ile1650Asn) n.5438T>A | |
| 2 | g.214978842T>A | CA350459621 | ABCA12 | c.4939A>T (p.Ile1647Phe) c.3985A>T (p.Ile1329Phe) n.5239A>T c.4948A>T (p.Ile1650Phe) n.5437A>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.214978842T>C | CA350459626 | ABCA12 | c.4939A>G (p.Ile1647Val) c.3985A>G (p.Ile1329Val) n.5239A>G c.4948A>G (p.Ile1650Val) n.5437A>G | |
| 2 | g.214978842T>G | CA350459627 | ABCA12 | c.4939A>C (p.Ile1647Leu) c.3985A>C (p.Ile1329Leu) n.5239A>C c.4948A>C (p.Ile1650Leu) n.5437A>C | |
| 2 | g.214978842T= | CA1327160321 | ABCA12 | c.4939A= (p.Ile1647=) c.3985A= (p.Ile1329=) n.5239A= c.4948A= (p.Ile1650=) n.5437A= | |
| 2 | g.214978843G>A | CA431147131 | ABCA12 | c.4938C>T (p.Asn1646=) c.3984C>T (p.Asn1328=) n.5238C>T c.4947C>T (p.Asn1649=) n.5436C>T | dbSNP gnomAD v4 |
| 2 | g.214978843G>C | CA350459630 | ABCA12 | c.4938C>G (p.Asn1646Lys) c.3984C>G (p.Asn1328Lys) n.5238C>G c.4947C>G (p.Asn1649Lys) n.5436C>G | |
| 2 | g.214978843G= | CA1327160322 | ABCA12 | c.4938C= (p.Asn1646=) c.3984C= (p.Asn1328=) n.5238C= c.4947C= (p.Asn1649=) n.5436C= | |
| 2 | g.214978843G>T | CA350459631 | ABCA12 | c.4938C>A (p.Asn1646Lys) c.3984C>A (p.Asn1328Lys) n.5238C>A c.4947C>A (p.Asn1649Lys) n.5436C>A | |
| 2 | g.214978844T>A | CA350459634 | ABCA12 | c.4937A>T (p.Asn1646Ile) c.3983A>T (p.Asn1328Ile) n.5237A>T c.4946A>T (p.Asn1649Ile) n.5435A>T | |
| 2 | g.214978844T>C | CA350459636 | ABCA12 | c.4937A>G (p.Asn1646Ser) c.3983A>G (p.Asn1328Ser) n.5237A>G c.4946A>G (p.Asn1649Ser) n.5435A>G | |
| 2 | g.214978844T>G | CA350459637 | ABCA12 | c.4937A>C (p.Asn1646Thr) c.3983A>C (p.Asn1328Thr) n.5237A>C c.4946A>C (p.Asn1649Thr) n.5435A>C | |
| 2 | g.214978845T>A | CA350459640 | ABCA12 | c.4936A>T (p.Asn1646Tyr) c.3982A>T (p.Asn1328Tyr) n.5236A>T c.4945A>T (p.Asn1649Tyr) n.5434A>T | |
| 2 | g.214978845T>C | CA350459642 | ABCA12 | c.4936A>G (p.Asn1646Asp) c.3982A>G (p.Asn1328Asp) n.5236A>G c.4945A>G (p.Asn1649Asp) n.5434A>G | |
| 2 | g.214978845T>G | CA350459644 | ABCA12 | c.4936A>C (p.Asn1646His) c.3982A>C (p.Asn1328His) n.5236A>C c.4945A>C (p.Asn1649His) n.5434A>C | |
| 2 | g.214978846G>A | CA431147151 | ABCA12 | c.4935C>T (p.Leu1645=) c.3981C>T (p.Leu1327=) n.5235C>T c.4944C>T (p.Leu1648=) n.5433C>T | |
| 2 | g.214978846G>C | CA431147157 | ABCA12 | c.4935C>G (p.Leu1645=) c.3981C>G (p.Leu1327=) n.5235C>G c.4944C>G (p.Leu1648=) n.5433C>G | |
| 2 | g.214978846G>T | CA431147154 | ABCA12 | c.4935C>A (p.Leu1645=) c.3981C>A (p.Leu1327=) n.5235C>A c.4944C>A (p.Leu1648=) n.5433C>A | |
| 2 | g.214978847A= | CA1327160323 | ABCA12 | c.4934T= (p.Leu1645=) c.3980T= (p.Leu1327=) n.5234T= c.4943T= (p.Leu1648=) n.5432T= | |
| 2 | g.214978847A>C | CA350459647 | ABCA12 | c.4934T>G (p.Leu1645Arg) c.3980T>G (p.Leu1327Arg) n.5234T>G c.4943T>G (p.Leu1648Arg) n.5432T>G | |
| 2 | g.214978847A>G | CA350459649 | ABCA12 | c.4934T>C (p.Leu1645Pro) c.3980T>C (p.Leu1327Pro) n.5234T>C c.4943T>C (p.Leu1648Pro) n.5432T>C | |
| 2 | g.214978847A>T | CA2091347 | ABCA12 | c.4934T>A (p.Leu1645His) c.3980T>A (p.Leu1327His) n.5234T>A c.4943T>A (p.Leu1648His) n.5432T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214978848G>A | CA350459653 | ABCA12 | c.4933C>T (p.Leu1645Phe) c.3979C>T (p.Leu1327Phe) n.5233C>T c.4942C>T (p.Leu1648Phe) n.5431C>T | |
| 2 | g.214978848G>C | CA350459655 | ABCA12 | c.4933C>G (p.Leu1645Val) c.3979C>G (p.Leu1327Val) n.5233C>G c.4942C>G (p.Leu1648Val) n.5431C>G | |
| 2 | g.214978848G>T | CA350459656 | ABCA12 | c.4933C>A (p.Leu1645Ile) c.3979C>A (p.Leu1327Ile) n.5233C>A c.4942C>A (p.Leu1648Ile) n.5431C>A | |
| 2 | g.214978849G>A | CA2091348 | ABCA12 | c.4932C>T (p.Asp1644=) c.3978C>T (p.Asp1326=) n.5232C>T c.4941C>T (p.Asp1647=) n.5430C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.214978849G>C | CA350459660 | ABCA12 | c.4932C>G (p.Asp1644Glu) c.3978C>G (p.Asp1326Glu) n.5232C>G c.4941C>G (p.Asp1647Glu) n.5430C>G | |
| 2 | g.214978849G= | CA1327160324 | ABCA12 | c.4932C= (p.Asp1644=) c.3978C= (p.Asp1326=) n.5232C= c.4941C= (p.Asp1647=) n.5430C= | |
| 2 | g.214978849G>T | CA350459661 | ABCA12 | c.4932C>A (p.Asp1644Glu) c.3978C>A (p.Asp1326Glu) n.5232C>A c.4941C>A (p.Asp1647Glu) n.5430C>A | |
| 2 | g.214978850T>A | CA350459665 | ABCA12 | c.4931A>T (p.Asp1644Val) c.3977A>T (p.Asp1326Val) n.5231A>T c.4940A>T (p.Asp1647Val) n.5429A>T | |
| 2 | g.214978850T>C | CA350459669 | ABCA12 | c.4931A>G (p.Asp1644Gly) c.3977A>G (p.Asp1326Gly) n.5231A>G c.4940A>G (p.Asp1647Gly) n.5429A>G | |
| 2 | g.214978850T>G | CA350459667 | ABCA12 | c.4931A>C (p.Asp1644Ala) c.3977A>C (p.Asp1326Ala) n.5231A>C c.4940A>C (p.Asp1647Ala) n.5429A>C | |
| 2 | g.214978851C>A | CA350459673 | ABCA12 | c.4930G>T (p.Asp1644Tyr) c.3976G>T (p.Asp1326Tyr) n.5230G>T c.4939G>T (p.Asp1647Tyr) n.5428G>T | gnomAD v4 |
| 2 | g.214978851C= | CA1327160325 | ABCA12 | c.4930G= (p.Asp1644=) c.3976G= (p.Asp1326=) n.5230G= c.4939G= (p.Asp1647=) n.5428G= | |
| 2 | g.214978851C>G | CA64813589 | ABCA12 | c.4930G>C (p.Asp1644His) c.3976G>C (p.Asp1326His) n.5230G>C c.4939G>C (p.Asp1647His) n.5428G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214978851C>T | CA350459675 | ABCA12 | c.4930G>A (p.Asp1644Asn) c.3976G>A (p.Asp1326Asn) n.5230G>A c.4939G>A (p.Asp1647Asn) n.5428G>A | gnomAD v4 |
| 2 | g.214978852A>C | CA431147189 | ABCA12 | c.4929T>G (p.Gly1643=) c.3975T>G (p.Gly1325=) n.5229T>G c.4938T>G (p.Gly1646=) n.5427T>G | |
| 2 | g.214978852A>G | CA431147192 | ABCA12 | c.4929T>C (p.Gly1643=) c.3975T>C (p.Gly1325=) n.5229T>C c.4938T>C (p.Gly1646=) n.5427T>C | |
| 2 | g.214978852A>T | CA431147194 | ABCA12 | c.4929T>A (p.Gly1643=) c.3975T>A (p.Gly1325=) n.5229T>A c.4938T>A (p.Gly1646=) n.5427T>A | |
| 2 | g.214978853C>A | CA2091349 | ABCA12 | c.4928G>T (p.Gly1643Val) c.3974G>T (p.Gly1325Val) n.5228G>T c.4937G>T (p.Gly1646Val) n.5426G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.214978853C= | CA1327160326 | ABCA12 | c.4928G= (p.Gly1643=) c.3974G= (p.Gly1325=) n.5228G= c.4937G= (p.Gly1646=) n.5426G= | |
| 2 | g.214978853C>G | CA350459685 | ABCA12 | c.4928G>C (p.Gly1643Ala) c.3974G>C (p.Gly1325Ala) n.5228G>C c.4937G>C (p.Gly1646Ala) n.5426G>C | |
| 2 | g.214978853C>T | CA350459683 | ABCA12 | c.4928G>A (p.Gly1643Asp) c.3974G>A (p.Gly1325Asp) n.5228G>A c.4937G>A (p.Gly1646Asp) n.5426G>A | |
| 2 | g.214978854C>A | CA2091351 | ABCA12 | c.4927G>T (p.Gly1643Cys) c.3973G>T (p.Gly1325Cys) n.5227G>T c.4936G>T (p.Gly1646Cys) n.5425G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.214978854C= | CA1327160327 | ABCA12 | c.4927G= (p.Gly1643=) c.3973G= (p.Gly1325=) n.5227G= c.4936G= (p.Gly1646=) n.5425G= | |
| 2 | g.214978854C>G | CA2091350 | ABCA12 | c.4927G>C (p.Gly1643Arg) c.3973G>C (p.Gly1325Arg) n.5227G>C c.4936G>C (p.Gly1646Arg) n.5425G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214978854C>T | CA350459687 | ABCA12 | c.4927G>A (p.Gly1643Ser) c.3973G>A (p.Gly1325Ser) n.5227G>A c.4936G>A (p.Gly1646Ser) n.5425G>A | ClinVar dbSNP |
| 2 | g.214978855C>A | CA350459690 | ABCA12 | c.4926G>T (p.Met1642Ile) c.3972G>T (p.Met1324Ile) n.5226G>T c.4935G>T (p.Met1645Ile) n.5424G>T | COSMIC COSMIC |