Canonical Allele Identifier: CA320662

Gene: GYS2

Linked Data

• ClinVar Variation Id: 214530
• ClinVar RCV Id: RCV000196241 ; RCV000763305
• dbSNP Id: rs150382575
• ExAC: 12:21727182 G / A
• gnomAD v2: 12-21727182-G-A
• gnomAD v3: 12-21574248-G-A
• gnomAD v4: 12-21574248-G-A
• COSMIC: COSM3459230
• MyVariant Identifiers: chr12:g.21727182G>A (hg19) ; chr12:g.21574248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21574248G>A , CM000674.2:g.21574248G>A	GRCh38
NC_000012.11:g.21727182G>A , CM000674.1:g.21727182G>A	GRCh37
NC_000012.10:g.21618449G>A	NCBI36
NG_016167.1:g.35600C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261195.3:c.574C>T MANE Select	ENSP00000261195.2:p.Arg192Ter
ENST00000647960.1:c.*576C>T	ENSP00000497202.1:n.*576C>T
ENST00000648372.1:n.501C>T
ENST00000261195.2:c.574C>T	ENSP00000261195.2:p.Arg192Ter
NM_021957.3:c.574C>T	NP_068776.2:p.Arg192Ter
XM_005253352.1:c.574C>T	XP_005253409.1:p.Arg192Ter
XM_005253354.2:c.355C>T	XP_005253411.1:p.Arg119Ter
XM_006719062.2:c.574C>T	XP_006719125.1:p.Arg192Ter
XM_006719063.2:c.343C>T	XP_006719126.1:p.Arg115Ter
NM_021957.4:c.574C>T MANE Select	NP_068776.2:p.Arg192Ter
XM_006719063.3:c.343C>T	XP_006719126.1:p.Arg115Ter
XM_017019245.2:c.574C>T	XP_016874734.1:p.Arg192Ter
XM_024448960.1:c.574C>T	XP_024304728.1:p.Arg192Ter