Canonical Allele Identifier: CA384122822

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21699400A>C (hg19) ; chr12:g.21546466A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1427T>G MANE Select	ENSP00000261195.2:p.Ile476Ser
ENST00000647960.1:c.*1429T>G	ENSP00000497202.1:n.*1429T>G
ENST00000261195.2:c.1427T>G	ENSP00000261195.2:p.Ile476Ser
NM_021957.3:c.1427T>G	NP_068776.2:p.Ile476Ser
XM_005253352.1:c.1427T>G	XP_005253409.1:p.Ile476Ser
XM_005253354.2:c.1208T>G	XP_005253411.1:p.Ile403Ser
XM_006719062.2:c.1427T>G	XP_006719125.1:p.Ile476Ser
XM_006719063.2:c.1196T>G	XP_006719126.1:p.Ile399Ser
NM_021957.4:c.1427T>G MANE Select	NP_068776.2:p.Ile476Ser
XM_006719063.3:c.1196T>G	XP_006719126.1:p.Ile399Ser
XM_024448960.1:c.1427T>G	XP_024304728.1:p.Ile476Ser