Linked Data
ClinVar Variation Id:
137527
dbSNP Id:
rs142883971
ExAC:
12:21692210 T / C
gnomAD v2:
12-21692210-T-C
gnomAD v3:
12-21539276-T-C
gnomAD v4:
12-21539276-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21539276T>C , CM000674.2:g.21539276T>C | GRCh38 |
| NC_000012.11:g.21692210T>C , CM000674.1:g.21692210T>C | GRCh37 |
| NC_000012.10:g.21583477T>C | NCBI36 |
| NG_016167.1:g.70572A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261195.3:c.1872A>G (GYS2) MANE Select | ENSP00000261195.2:p.Glu624= | |
| ENST00000647960.1:c.*1874A>G | ENSP00000497202.1:n.*1874A>G | |
| ENST00000649016.1:n.2759T>C (SPX) | ||
| ENST00000261195.2:c.1872A>G (GYS2) | ENSP00000261195.2:p.Glu624= | |
| NM_021957.3:c.1872A>G (GYS2) | NP_068776.2:p.Glu624= | |
| XM_005253352.1:c.1872A>G (GYS2) | XP_005253409.1:p.Glu624= | |
| XM_005253354.2:c.1653A>G (GYS2) | XP_005253411.1:p.Glu551= | |
| XM_006719062.2:c.1872A>G (GYS2) | XP_006719125.1:p.Glu624= | |
| XM_006719063.2:c.1641A>G (GYS2) | XP_006719126.1:p.Glu547= | |
| NM_021957.4:c.1872A>G (GYS2) MANE Select | NP_068776.2:p.Glu624= | |
| XM_006719063.3:c.1641A>G (GYS2) | XP_006719126.1:p.Glu547= | |
| XM_024448960.1:c.1872A>G (GYS2) | XP_024304728.1:p.Glu624= |