Canonical Allele Identifier: CA126172
Gene: GYS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16053
ClinVar RCV Id: RCV000017431
dbSNP Id: rs121918422

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21546421A>C , CM000674.2:g.21546421A>C GRCh38
NC_000012.11:g.21699355A>C , CM000674.1:g.21699355A>C GRCh37
NC_000012.10:g.21590622A>C NCBI36
NG_016167.1:g.63427T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261195.3:c.1472T>G MANE Select ENSP00000261195.2:p.Met491Arg
ENST00000647960.1:c.*1474T>G ENSP00000497202.1:n.*1474T>G
ENST00000261195.2:c.1472T>G ENSP00000261195.2:p.Met491Arg
NM_021957.3:c.1472T>G NP_068776.2:p.Met491Arg
XM_005253352.1:c.1472T>G XP_005253409.1:p.Met491Arg
XM_005253354.2:c.1253T>G XP_005253411.1:p.Met418Arg
XM_006719062.2:c.1472T>G XP_006719125.1:p.Met491Arg
XM_006719063.2:c.1241T>G XP_006719126.1:p.Met414Arg
NM_021957.4:c.1472T>G MANE Select NP_068776.2:p.Met491Arg
XM_006719063.3:c.1241T>G XP_006719126.1:p.Met414Arg
XM_024448960.1:c.1472T>G XP_024304728.1:p.Met491Arg