Canonical Allele Identifier: CA16619498
Gene: GYS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418240
ClinVar RCV Id: RCV000482018
dbSNP Id: rs1064793143
MyVariant Identifiers: chr12:g.21699305A>C (hg19) chr12:g.21546371A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21546371A>C , CM000674.2:g.21546371A>C GRCh38
NC_000012.11:g.21699305A>C , CM000674.1:g.21699305A>C GRCh37
NC_000012.10:g.21590572A>C NCBI36
NG_016167.1:g.63477T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261195.3:c.1522T>G MANE Select ENSP00000261195.2:p.Tyr508Asp
ENST00000647960.1:c.*1524T>G ENSP00000497202.1:n.*1524T>G
ENST00000261195.2:c.1522T>G ENSP00000261195.2:p.Tyr508Asp
NM_021957.3:c.1522T>G NP_068776.2:p.Tyr508Asp
XM_005253352.1:c.1522T>G XP_005253409.1:p.Tyr508Asp
XM_005253354.2:c.1303T>G XP_005253411.1:p.Tyr435Asp
XM_006719062.2:c.1522T>G XP_006719125.1:p.Tyr508Asp
XM_006719063.2:c.1291T>G XP_006719126.1:p.Tyr431Asp
NM_021957.4:c.1522T>G MANE Select NP_068776.2:p.Tyr508Asp
XM_006719063.3:c.1291T>G XP_006719126.1:p.Tyr431Asp
XM_024448960.1:c.1522T>G XP_024304728.1:p.Tyr508Asp
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