Canonical Allele Identifier: CA233607133

Gene: GYS2

Linked Data

• ClinVar Variation Id: 2489712
• ClinVar RCV Id: RCV003205903
• dbSNP Id: rs201958662
• gnomAD v3: 12-21562987-C-A
• gnomAD v4: 12-21562987-C-A
• MyVariant Identifiers: chr12:g.21715921C>A (hg19) ; chr12:g.21562987C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562987C>A , CM000674.2:g.21562987C>A	GRCh38
NC_000012.11:g.21715921C>A , CM000674.1:g.21715921C>A	GRCh37
NC_000012.10:g.21607188C>A	NCBI36
NG_016167.1:g.46861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.993G>T MANE Select	ENSP00000261195.2:p.Arg331Ser
ENST00000647960.1:c.*995G>T	ENSP00000497202.1:n.*995G>T
ENST00000648372.1:n.920G>T
ENST00000261195.2:c.993G>T	ENSP00000261195.2:p.Arg331Ser
NM_021957.3:c.993G>T	NP_068776.2:p.Arg331Ser
XM_005253352.1:c.993G>T	XP_005253409.1:p.Arg331Ser
XM_005253354.2:c.774G>T	XP_005253411.1:p.Arg258Ser
XM_006719062.2:c.993G>T	XP_006719125.1:p.Arg331Ser
XM_006719063.2:c.762G>T	XP_006719126.1:p.Arg254Ser
NM_021957.4:c.993G>T MANE Select	NP_068776.2:p.Arg331Ser
XM_006719063.3:c.762G>T	XP_006719126.1:p.Arg254Ser
XM_017019245.2:c.993G>T	XP_016874734.1:p.Arg331Ser
XM_024448960.1:c.993G>T	XP_024304728.1:p.Arg331Ser