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 |
|---|---|---|---|---|---|
| 12 | g.21562965C>A | CA384132541 | GYS2 | c.1015G>T (p.Ala339Ser) c.*1017G>T (n.*1017G>T) n.942G>T c.796G>T (p.Ala266Ser) c.784G>T (p.Ala262Ser) | |
| 12 | g.21562965C= | CA2021178840 | GYS2 | c.1015G= (p.Ala339=) c.*1017G= (n.*1017G=) n.942G= c.796G= (p.Ala266=) c.784G= (p.Ala262=) | |
| 12 | g.21562965C>G | CA126171 | GYS2 | c.1015G>C (p.Ala339Pro) c.*1017G>C (n.*1017G>C) n.942G>C c.796G>C (p.Ala266Pro) c.784G>C (p.Ala262Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562965C>T | CA384132549 | GYS2 | c.1015G>A (p.Ala339Thr) c.*1017G>A (n.*1017G>A) n.942G>A c.796G>A (p.Ala266Thr) c.784G>A (p.Ala262Thr) | |
| 12 | g.21562966T>A | CA478869497 | GYS2 | c.1014A>T (p.Gly338=) c.*1016A>T (n.*1016A>T) n.941A>T c.795A>T (p.Gly265=) c.783A>T (p.Gly261=) | |
| 12 | g.21562966T>C | CA478869498 | GYS2 | c.1014A>G (p.Gly338=) c.*1016A>G (n.*1016A>G) n.941A>G c.795A>G (p.Gly265=) c.783A>G (p.Gly261=) | |
| 12 | g.21562966T>G | CA478869499 | GYS2 | c.1014A>C (p.Gly338=) c.*1016A>C (n.*1016A>C) n.941A>C c.795A>C (p.Gly265=) c.783A>C (p.Gly261=) | |
| 12 | g.21562967C>A | CA384132554 | GYS2 | c.1013G>T (p.Gly338Val) c.*1015G>T (n.*1015G>T) n.940G>T c.794G>T (p.Gly265Val) c.782G>T (p.Gly261Val) | |
| 12 | g.21562967C= | CA2021178844 | GYS2 | c.1013G= (p.Gly338=) c.*1015G= (n.*1015G=) n.940G= c.794G= (p.Gly265=) c.782G= (p.Gly261=) | |
| 12 | g.21562967C>G | CA384132557 | GYS2 | c.1013G>C (p.Gly338Ala) c.*1015G>C (n.*1015G>C) n.940G>C c.794G>C (p.Gly265Ala) c.782G>C (p.Gly261Ala) | |
| 12 | g.21562967C>T | CA384132558 | GYS2 | c.1013G>A (p.Gly338Glu) c.*1015G>A (n.*1015G>A) n.940G>A c.794G>A (p.Gly265Glu) c.782G>A (p.Gly261Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562968C>A | CA384132559 | GYS2 | c.1012G>T (p.Gly338Ter) c.*1014G>T (n.*1014G>T) n.939G>T c.793G>T (p.Gly265Ter) c.781G>T (p.Gly261Ter) | |
| 12 | g.21562968C= | CA2021178847 | GYS2 | c.1012G= (p.Gly338=) c.*1014G= (n.*1014G=) n.939G= c.793G= (p.Gly265=) c.781G= (p.Gly261=) | |
| 12 | g.21562968C>G | CA384132562 | GYS2 | c.1012G>C (p.Gly338Arg) c.*1014G>C (n.*1014G>C) n.939G>C c.793G>C (p.Gly265Arg) c.781G>C (p.Gly261Arg) | |
| 12 | g.21562968C>T | CA6480023 | GYS2 | c.1012G>A (p.Gly338Arg) c.*1014G>A (n.*1014G>A) n.939G>A c.793G>A (p.Gly265Arg) c.781G>A (p.Gly261Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562969T>A | CA384132572 | GYS2 | c.1011A>T (p.Lys337Asn) c.*1013A>T (n.*1013A>T) n.938A>T c.792A>T (p.Lys264Asn) c.780A>T (p.Lys260Asn) | |
| 12 | g.21562969T>C | CA478869503 | GYS2 | c.1011A>G (p.Lys337=) c.*1013A>G (n.*1013A>G) n.938A>G c.792A>G (p.Lys264=) c.780A>G (p.Lys260=) | dbSNP |
| 12 | g.21562969T>G | CA384132571 | GYS2 | c.1011A>C (p.Lys337Asn) c.*1013A>C (n.*1013A>C) n.938A>C c.792A>C (p.Lys264Asn) c.780A>C (p.Lys260Asn) | |
| 12 | g.21562969T= | CA2021178850 | GYS2 | c.1011A= (p.Lys337=) c.*1013A= (n.*1013A=) n.938A= c.792A= (p.Lys264=) c.780A= (p.Lys260=) | |
| 12 | g.21562970T>A | CA384132573 | GYS2 | c.1010A>T (p.Lys337Ile) c.*1012A>T (n.*1012A>T) n.937A>T c.791A>T (p.Lys264Ile) c.779A>T (p.Lys260Ile) | |
| 12 | g.21562970T>C | CA384132576 | GYS2 | c.1010A>G (p.Lys337Arg) c.*1012A>G (n.*1012A>G) n.937A>G c.791A>G (p.Lys264Arg) c.779A>G (p.Lys260Arg) | |
| 12 | g.21562970T>G | CA384132582 | GYS2 | c.1010A>C (p.Lys337Thr) c.*1012A>C (n.*1012A>C) n.937A>C c.791A>C (p.Lys264Thr) c.779A>C (p.Lys260Thr) | |
| 12 | g.21562971T>A | CA384132583 | GYS2 | c.1009A>T (p.Lys337Ter) c.*1011A>T (n.*1011A>T) n.936A>T c.790A>T (p.Lys264Ter) c.778A>T (p.Lys260Ter) | |
| 12 | g.21562971T>C | CA384132586 | GYS2 | c.1009A>G (p.Lys337Glu) c.*1011A>G (n.*1011A>G) n.936A>G c.790A>G (p.Lys264Glu) c.778A>G (p.Lys260Glu) | gnomAD v4 |
| 12 | g.21562971T>G | CA384132589 | GYS2 | c.1009A>C (p.Lys337Gln) c.*1011A>C (n.*1011A>C) n.936A>C c.790A>C (p.Lys264Gln) c.778A>C (p.Lys260Gln) | dbSNP gnomAD v4 |
| 12 | g.21562971T= | CA2021178852 | GYS2 | c.1009A= (p.Lys337=) c.*1011A= (n.*1011A=) n.936A= c.790A= (p.Lys264=) c.778A= (p.Lys260=) | |
| 12 | g.21562972G>A | CA478869504 | GYS2 | c.1008C>T (p.Asn336=) c.*1010C>T (n.*1010C>T) n.935C>T c.789C>T (p.Asn263=) c.777C>T (p.Asn259=) | gnomAD v4 |
| 12 | g.21562972G>C | CA384132594 | GYS2 | c.1008C>G (p.Asn336Lys) c.*1010C>G (n.*1010C>G) n.935C>G c.789C>G (p.Asn263Lys) c.777C>G (p.Asn259Lys) | |
| 12 | g.21562972G>T | CA384132596 | GYS2 | c.1008C>A (p.Asn336Lys) c.*1010C>A (n.*1010C>A) n.935C>A c.789C>A (p.Asn263Lys) c.777C>A (p.Asn259Lys) | |
| 12 | g.21562973T>A | CA384132598 | GYS2 | c.1007A>T (p.Asn336Ile) c.*1009A>T (n.*1009A>T) n.934A>T c.788A>T (p.Asn263Ile) c.776A>T (p.Asn259Ile) | |
| 12 | g.21562973T>C | CA384132600 | GYS2 | c.1007A>G (p.Asn336Ser) c.*1009A>G (n.*1009A>G) n.934A>G c.788A>G (p.Asn263Ser) c.776A>G (p.Asn259Ser) | |
| 12 | g.21562973T>G | CA384132603 | GYS2 | c.1007A>C (p.Asn336Thr) c.*1009A>C (n.*1009A>C) n.934A>C c.788A>C (p.Asn263Thr) c.776A>C (p.Asn259Thr) | |
| 12 | g.21562974T>A | CA384132609 | GYS2 | c.1006A>T (p.Asn336Tyr) c.*1008A>T (n.*1008A>T) n.933A>T c.787A>T (p.Asn263Tyr) c.775A>T (p.Asn259Tyr) | |
| 12 | g.21562974T>C | CA384132608 | GYS2 | c.1006A>G (p.Asn336Asp) c.*1008A>G (n.*1008A>G) n.933A>G c.787A>G (p.Asn263Asp) c.775A>G (p.Asn259Asp) | |
| 12 | g.21562974T>G | CA384132605 | GYS2 | c.1006A>C (p.Asn336His) c.*1008A>C (n.*1008A>C) n.933A>C c.787A>C (p.Asn263His) c.775A>C (p.Asn259His) | |
| 12 | g.21562975T>A | CA478869505 | GYS2 | c.1005A>T (p.Ser335=) c.*1007A>T (n.*1007A>T) n.932A>T c.786A>T (p.Ser262=) c.774A>T (p.Ser258=) | |
| 12 | g.21562975T>C | CA478869506 | GYS2 | c.1005A>G (p.Ser335=) c.*1007A>G (n.*1007A>G) n.932A>G c.786A>G (p.Ser262=) c.774A>G (p.Ser258=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562975T>G | CA478869507 | GYS2 | c.1005A>C (p.Ser335=) c.*1007A>C (n.*1007A>C) n.932A>C c.786A>C (p.Ser262=) c.774A>C (p.Ser258=) | |
| 12 | g.21562975T= | CA2021178855 | GYS2 | c.1005A= (p.Ser335=) c.*1007A= (n.*1007A=) n.932A= c.786A= (p.Ser262=) c.774A= (p.Ser258=) | |
| 12 | g.21562976G>A | CA6480024 | GYS2 | c.1004C>T (p.Ser335Leu) c.*1006C>T (n.*1006C>T) n.931C>T c.785C>T (p.Ser262Leu) c.773C>T (p.Ser258Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562976G>C | CA384132614 | GYS2 | c.1004C>G (p.Ser335Ter) c.*1006C>G (n.*1006C>G) n.931C>G c.785C>G (p.Ser262Ter) c.773C>G (p.Ser258Ter) | |
| 12 | g.21562976G= | CA2021178857 | GYS2 | c.1004C= (p.Ser335=) c.*1006C= (n.*1006C=) n.931C= c.785C= (p.Ser262=) c.773C= (p.Ser258=) | |
| 12 | g.21562976G>T | CA384132618 | GYS2 | c.1004C>A (p.Ser335Ter) c.*1006C>A (n.*1006C>A) n.931C>A c.785C>A (p.Ser262Ter) c.773C>A (p.Ser258Ter) | COSMIC |
| 12 | g.21562977A>C | CA384132623 | GYS2 | c.1003T>G (p.Ser335Ala) c.*1005T>G (n.*1005T>G) n.930T>G c.784T>G (p.Ser262Ala) c.772T>G (p.Ser258Ala) | |
| 12 | g.21562977A>G | CA384132626 | GYS2 | c.1003T>C (p.Ser335Pro) c.*1005T>C (n.*1005T>C) n.930T>C c.784T>C (p.Ser262Pro) c.772T>C (p.Ser258Pro) | |
| 12 | g.21562977A>T | CA384132630 | GYS2 | c.1003T>A (p.Ser335Thr) c.*1005T>A (n.*1005T>A) n.930T>A c.784T>A (p.Ser262Thr) c.772T>A (p.Ser258Thr) | |
| 12 | g.21562978A= | CA2021178862 | GYS2 | c.1002T= (p.Phe334=) c.*1004T= (n.*1004T=) n.929T= c.783T= (p.Phe261=) c.771T= (p.Phe257=) | |
| 12 | g.21562978A>C | CA384132632 | GYS2 | c.1002T>G (p.Phe334Leu) c.*1004T>G (n.*1004T>G) n.929T>G c.783T>G (p.Phe261Leu) c.771T>G (p.Phe257Leu) | |
| 12 | g.21562978A>G | CA233607124 | GYS2 | c.1002T>C (p.Phe334=) c.*1004T>C (n.*1004T>C) n.929T>C c.783T>C (p.Phe261=) c.771T>C (p.Phe257=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562978A>T | CA384132639 | GYS2 | c.1002T>A (p.Phe334Leu) c.*1004T>A (n.*1004T>A) n.929T>A c.783T>A (p.Phe261Leu) c.771T>A (p.Phe257Leu) |