Canonical Allele Identifier: CA324545

Gene: GYS2

Linked Data

• ClinVar Variation Id: 214532
• ClinVar RCV Id: RCV000199996
• dbSNP Id: rs863224039
• gnomAD v4: 12-21546466-A-T
• MyVariant Identifiers: chr12:g.21699400A>T (hg19) ; chr12:g.21546466A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261195.3:c.1427T>A MANE Select	ENSP00000261195.2:p.Ile476Asn
ENST00000647960.1:c.*1429T>A	ENSP00000497202.1:n.*1429T>A
ENST00000261195.2:c.1427T>A	ENSP00000261195.2:p.Ile476Asn
NM_021957.3:c.1427T>A	NP_068776.2:p.Ile476Asn
XM_005253352.1:c.1427T>A	XP_005253409.1:p.Ile476Asn
XM_005253354.2:c.1208T>A	XP_005253411.1:p.Ile403Asn
XM_006719062.2:c.1427T>A	XP_006719125.1:p.Ile476Asn
XM_006719063.2:c.1196T>A	XP_006719126.1:p.Ile399Asn
NM_021957.4:c.1427T>A MANE Select	NP_068776.2:p.Ile476Asn
XM_006719063.3:c.1196T>A	XP_006719126.1:p.Ile399Asn
XM_024448960.1:c.1427T>A	XP_024304728.1:p.Ile476Asn