Canonical Allele Identifier: CA6479820

Gene: GYS2

Linked Data

• dbSNP Id: rs767304642
• ExAC: 12:21699404 C / T
• gnomAD v2: 12-21699404-C-T
• gnomAD v4: 12-21546470-C-T
• MyVariant Identifiers: chr12:g.21699404C>T (hg19) ; chr12:g.21546470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546470C>T , CM000674.2:g.21546470C>T	GRCh38
NC_000012.11:g.21699404C>T , CM000674.1:g.21699404C>T	GRCh37
NC_000012.10:g.21590671C>T	NCBI36
NG_016167.1:g.63378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1423G>A MANE Select	ENSP00000261195.2:p.Val475Met
ENST00000647960.1:c.*1425G>A	ENSP00000497202.1:n.*1425G>A
ENST00000261195.2:c.1423G>A	ENSP00000261195.2:p.Val475Met
NM_021957.3:c.1423G>A	NP_068776.2:p.Val475Met
XM_005253352.1:c.1423G>A	XP_005253409.1:p.Val475Met
XM_005253354.2:c.1204G>A	XP_005253411.1:p.Val402Met
XM_006719062.2:c.1423G>A	XP_006719125.1:p.Val475Met
XM_006719063.2:c.1192G>A	XP_006719126.1:p.Val398Met
NM_021957.4:c.1423G>A MANE Select	NP_068776.2:p.Val475Met
XM_006719063.3:c.1192G>A	XP_006719126.1:p.Val398Met
XM_024448960.1:c.1423G>A	XP_024304728.1:p.Val475Met