Canonical Allele Identifier: CA384122817

Gene: GYS2

Linked Data

• dbSNP Id: rs863224039
• gnomAD v2: 12-21699400-A-G
• gnomAD v4: 12-21546466-A-G
• MyVariant Identifiers: chr12:g.21699400A>G (hg19) ; chr12:g.21546466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546466A>G , CM000674.2:g.21546466A>G	GRCh38
NC_000012.11:g.21699400A>G , CM000674.1:g.21699400A>G	GRCh37
NC_000012.10:g.21590667A>G	NCBI36
NG_016167.1:g.63382T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1427T>C MANE Select	ENSP00000261195.2:p.Ile476Thr
ENST00000647960.1:c.*1429T>C	ENSP00000497202.1:n.*1429T>C
ENST00000261195.2:c.1427T>C	ENSP00000261195.2:p.Ile476Thr
NM_021957.3:c.1427T>C	NP_068776.2:p.Ile476Thr
XM_005253352.1:c.1427T>C	XP_005253409.1:p.Ile476Thr
XM_005253354.2:c.1208T>C	XP_005253411.1:p.Ile403Thr
XM_006719062.2:c.1427T>C	XP_006719125.1:p.Ile476Thr
XM_006719063.2:c.1196T>C	XP_006719126.1:p.Ile399Thr
NM_021957.4:c.1427T>C MANE Select	NP_068776.2:p.Ile476Thr
XM_006719063.3:c.1196T>C	XP_006719126.1:p.Ile399Thr
XM_024448960.1:c.1427T>C	XP_024304728.1:p.Ile476Thr