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 |
|---|---|---|---|---|---|
| 6 | g.149378323C>A | CA452719817 | TAB2 | n.823C>A c.408C>A (p.Gly136=) c.-96-349C>A (n.-96-349C>A) c.186C>A (p.Gly62=) c.312C>A (p.Gly104=) | |
| 6 | g.149378323C= | CA1671915013 | TAB2 | n.823C= c.408C= (p.Gly136=) c.-96-349C= (n.-96-349C=) c.186C= (p.Gly62=) c.312C= (p.Gly104=) | |
| 6 | g.149378323C>G | CA452719818 | TAB2 | n.823C>G c.408C>G (p.Gly136=) c.-96-349C>G (n.-96-349C>G) c.186C>G (p.Gly62=) c.312C>G (p.Gly104=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.149378323C>T | CA452719819 | TAB2 | n.823C>T c.408C>T (p.Gly136=) c.-96-349C>T (n.-96-349C>T) c.186C>T (p.Gly62=) c.312C>T (p.Gly104=) | gnomAD v4 |
| 6 | g.149378324T>A | CA365993970 | TAB2 | n.824T>A c.409T>A (p.Phe137Ile) c.-96-348T>A (n.-96-348T>A) c.187T>A (p.Phe63Ile) c.313T>A (p.Phe105Ile) | |
| 6 | g.149378324T>C | CA365993975 | TAB2 | n.824T>C c.409T>C (p.Phe137Leu) c.-96-348T>C (n.-96-348T>C) c.187T>C (p.Phe63Leu) c.313T>C (p.Phe105Leu) | |
| 6 | g.149378324T>G | CA365993977 | TAB2 | n.824T>G c.409T>G (p.Phe137Val) c.-96-348T>G (n.-96-348T>G) c.187T>G (p.Phe63Val) c.313T>G (p.Phe105Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.149378324T= | CA1671915015 | TAB2 | n.824T= c.409T= (p.Phe137=) c.-96-348T= (n.-96-348T=) c.187T= (p.Phe63=) c.313T= (p.Phe105=) | |
| 6 | g.149378325T>A | CA365993982 | TAB2 | n.825T>A c.410T>A (p.Phe137Tyr) c.-96-347T>A (n.-96-347T>A) c.188T>A (p.Phe63Tyr) c.314T>A (p.Phe105Tyr) | |
| 6 | g.149378325T>C | CA365993984 | TAB2 | n.825T>C c.410T>C (p.Phe137Ser) c.-96-347T>C (n.-96-347T>C) c.188T>C (p.Phe63Ser) c.314T>C (p.Phe105Ser) | |
| 6 | g.149378325T>G | CA365993993 | TAB2 | n.825T>G c.410T>G (p.Phe137Cys) c.-96-347T>G (n.-96-347T>G) c.188T>G (p.Phe63Cys) c.314T>G (p.Phe105Cys) | |
| 6 | g.149378326T>A | CA365993997 | TAB2 | n.826T>A c.411T>A (p.Phe137Leu) c.-96-346T>A (n.-96-346T>A) c.189T>A (p.Phe63Leu) c.315T>A (p.Phe105Leu) | |
| 6 | g.149378326T>C | CA452719820 | TAB2 | n.826T>C c.411T>C (p.Phe137=) c.-96-346T>C (n.-96-346T>C) c.189T>C (p.Phe63=) c.315T>C (p.Phe105=) | gnomAD v4 |
| 6 | g.149378326T>G | CA365994001 | TAB2 | n.826T>G c.411T>G (p.Phe137Leu) c.-96-346T>G (n.-96-346T>G) c.189T>G (p.Phe63Leu) c.315T>G (p.Phe105Leu) | |
| 6 | g.149378327A>C | CA365994005 | TAB2 | n.827A>C c.412A>C (p.Asn138His) c.-96-345A>C (n.-96-345A>C) c.190A>C (p.Asn64His) c.316A>C (p.Asn106His) | |
| 6 | g.149378327A>G | CA365994008 | TAB2 | n.827A>G c.412A>G (p.Asn138Asp) c.-96-345A>G (n.-96-345A>G) c.190A>G (p.Asn64Asp) c.316A>G (p.Asn106Asp) | |
| 6 | g.149378327A>T | CA365994011 | TAB2 | n.827A>T c.412A>T (p.Asn138Tyr) c.-96-345A>T (n.-96-345A>T) c.190A>T (p.Asn64Tyr) c.316A>T (p.Asn106Tyr) | |
| 6 | g.149378328A>C | CA365994026 | TAB2 | n.828A>C c.413A>C (p.Asn138Thr) c.-96-344A>C (n.-96-344A>C) c.191A>C (p.Asn64Thr) c.317A>C (p.Asn106Thr) | |
| 6 | g.149378328A>G | CA365994022 | TAB2 | n.828A>G c.413A>G (p.Asn138Ser) c.-96-344A>G (n.-96-344A>G) c.191A>G (p.Asn64Ser) c.317A>G (p.Asn106Ser) | |
| 6 | g.149378328A>T | CA365994016 | TAB2 | n.828A>T c.413A>T (p.Asn138Ile) c.-96-344A>T (n.-96-344A>T) c.191A>T (p.Asn64Ile) c.317A>T (p.Asn106Ile) | |
| 6 | g.149378329T>A | CA365994030 | TAB2 | n.829T>A c.414T>A (p.Asn138Lys) c.-96-343T>A (n.-96-343T>A) c.192T>A (p.Asn64Lys) c.318T>A (p.Asn106Lys) | |
| 6 | g.149378329T>C | CA452719821 | TAB2 | n.829T>C c.414T>C (p.Asn138=) c.-96-343T>C (n.-96-343T>C) c.192T>C (p.Asn64=) c.318T>C (p.Asn106=) | |
| 6 | g.149378329T>G | CA365994034 | TAB2 | n.829T>G c.414T>G (p.Asn138Lys) c.-96-343T>G (n.-96-343T>G) c.192T>G (p.Asn64Lys) c.318T>G (p.Asn106Lys) | |
| 6 | g.149378330G>A | CA4041400 | TAB2 | n.830G>A c.415G>A (p.Val139Ile) c.-96-342G>A (n.-96-342G>A) c.193G>A (p.Val65Ile) c.319G>A (p.Val107Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.149378330G>C | CA365994037 | TAB2 | n.830G>C c.415G>C (p.Val139Leu) c.-96-342G>C (n.-96-342G>C) c.193G>C (p.Val65Leu) c.319G>C (p.Val107Leu) | |
| 6 | g.149378330G= | CA1671915018 | TAB2 | n.830G= c.415G= (p.Val139=) c.-96-342G= (n.-96-342G=) c.193G= (p.Val65=) c.319G= (p.Val107=) | |
| 6 | g.149378330G>T | CA365994038 | TAB2 | n.830G>T c.415G>T (p.Val139Phe) c.-96-342G>T (n.-96-342G>T) c.193G>T (p.Val65Phe) c.319G>T (p.Val107Phe) | |
| 6 | g.149378331T>A | CA365994040 | TAB2 | n.831T>A c.416T>A (p.Val139Asp) c.-96-341T>A (n.-96-341T>A) c.194T>A (p.Val65Asp) c.320T>A (p.Val107Asp) | |
| 6 | g.149378331T>C | CA365994042 | TAB2 | n.831T>C c.416T>C (p.Val139Ala) c.-96-341T>C (n.-96-341T>C) c.194T>C (p.Val65Ala) c.320T>C (p.Val107Ala) | |
| 6 | g.149378331T>G | CA365994045 | TAB2 | n.831T>G c.416T>G (p.Val139Gly) c.-96-341T>G (n.-96-341T>G) c.194T>G (p.Val65Gly) c.320T>G (p.Val107Gly) | |
| 6 | g.149378335del | CA452719822 | TAB2 | n.835del c.420del (p.Phe140LeufsTer20) c.-96-337del (n.-96-337del) c.198del (p.Phe66LeufsTer20) c.324del (p.Phe108LeufsTer20) | COSMIC |
| 6 | g.149378332T>A | CA452719823 | TAB2 | n.832T>A c.417T>A (p.Val139=) c.-96-340T>A (n.-96-340T>A) c.195T>A (p.Val65=) c.321T>A (p.Val107=) | |
| 6 | g.149378332T>C | CA452719824 | TAB2 | n.832T>C c.417T>C (p.Val139=) c.-96-340T>C (n.-96-340T>C) c.195T>C (p.Val65=) c.321T>C (p.Val107=) | |
| 6 | g.149378332T>G | CA452719825 | TAB2 | n.832T>G c.417T>G (p.Val139=) c.-96-340T>G (n.-96-340T>G) c.195T>G (p.Val65=) c.321T>G (p.Val107=) | dbSNP |
| 6 | g.149378332T= | CA1671915025 | TAB2 | n.832T= c.417T= (p.Val139=) c.-96-340T= (n.-96-340T=) c.195T= (p.Val65=) c.321T= (p.Val107=) | |
| 6 | g.149378333T>A | CA365994049 | TAB2 | n.833T>A c.418T>A (p.Phe140Ile) c.-96-339T>A (n.-96-339T>A) c.196T>A (p.Phe66Ile) c.322T>A (p.Phe108Ile) | |
| 6 | g.149378333T>C | CA365994056 | TAB2 | n.833T>C c.418T>C (p.Phe140Leu) c.-96-339T>C (n.-96-339T>C) c.196T>C (p.Phe66Leu) c.322T>C (p.Phe108Leu) | |
| 6 | g.149378333T>G | CA365994059 | TAB2 | n.833T>G c.418T>G (p.Phe140Val) c.-96-339T>G (n.-96-339T>G) c.196T>G (p.Phe66Val) c.322T>G (p.Phe108Val) | |
| 6 | g.149378334T>A | CA365994063 | TAB2 | n.834T>A c.419T>A (p.Phe140Tyr) c.-96-338T>A (n.-96-338T>A) c.197T>A (p.Phe66Tyr) c.323T>A (p.Phe108Tyr) | |
| 6 | g.149378334T>C | CA365994065 | TAB2 | n.834T>C c.419T>C (p.Phe140Ser) c.-96-338T>C (n.-96-338T>C) c.197T>C (p.Phe66Ser) c.323T>C (p.Phe108Ser) | |
| 6 | g.149378334T>G | CA365994068 | TAB2 | n.834T>G c.419T>G (p.Phe140Cys) c.-96-338T>G (n.-96-338T>G) c.197T>G (p.Phe66Cys) c.323T>G (p.Phe108Cys) | |
| 6 | g.149378335T>A | CA4041401 | TAB2 | n.835T>A c.420T>A (p.Phe140Leu) c.-96-337T>A (n.-96-337T>A) c.198T>A (p.Phe66Leu) c.324T>A (p.Phe108Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.149378335T>C | CA452719826 | TAB2 | n.835T>C c.420T>C (p.Phe140=) c.-96-337T>C (n.-96-337T>C) c.198T>C (p.Phe66=) c.324T>C (p.Phe108=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.149378335T>G | CA365994071 | TAB2 | n.835T>G c.420T>G (p.Phe140Leu) c.-96-337T>G (n.-96-337T>G) c.198T>G (p.Phe66Leu) c.324T>G (p.Phe108Leu) | |
| 6 | g.149378335T= | CA1671915029 | TAB2 | n.835T= c.420T= (p.Phe140=) c.-96-337T= (n.-96-337T=) c.198T= (p.Phe66=) c.324T= (p.Phe108=) | |
| 6 | g.149378336G>A | CA365994083 | TAB2 | n.836G>A c.421G>A (p.Gly141Arg) c.-96-336G>A (n.-96-336G>A) c.199G>A (p.Gly67Arg) c.325G>A (p.Gly109Arg) | |
| 6 | g.149378336G>C | CA365994086 | TAB2 | n.836G>C c.421G>C (p.Gly141Arg) c.-96-336G>C (n.-96-336G>C) c.199G>C (p.Gly67Arg) c.325G>C (p.Gly109Arg) | |
| 6 | g.149378336G>T | CA365994087 | TAB2 | n.836G>T c.421G>T (p.Gly141Ter) c.-96-336G>T (n.-96-336G>T) c.199G>T (p.Gly67Ter) c.325G>T (p.Gly109Ter) | |
| 6 | g.149378337G>A | CA365994088 | TAB2 | n.837G>A c.422G>A (p.Gly141Glu) c.-96-335G>A (n.-96-335G>A) c.200G>A (p.Gly67Glu) c.326G>A (p.Gly109Glu) | |
| 6 | g.149378337G>C | CA365994090 | TAB2 | n.837G>C c.422G>C (p.Gly141Ala) c.-96-335G>C (n.-96-335G>C) c.200G>C (p.Gly67Ala) c.326G>C (p.Gly109Ala) |