Canonical Allele Identifier: CA2021178949

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563031C= , CM000674.2:g.21563031C=	GRCh38
NC_000012.11:g.21715965C= , CM000674.1:g.21715965C=	GRCh37
NC_000012.10:g.21607232C=	NCBI36
NG_016167.1:g.46817G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.949G= MANE Select	ENSP00000261195.2:p.Asp317=
ENST00000647960.1:c.*951G=	ENSP00000497202.1:n.*951G=
ENST00000648372.1:n.876G=
ENST00000261195.2:c.949G=	ENSP00000261195.2:p.Asp317=
NM_021957.3:c.949G=	NP_068776.2:p.Asp317=
XM_005253352.1:c.949G=	XP_005253409.1:p.Asp317=
XM_005253354.2:c.730G=	XP_005253411.1:p.Asp244=
XM_006719062.2:c.949G=	XP_006719125.1:p.Asp317=
XM_006719063.2:c.718G=	XP_006719126.1:p.Asp240=
NM_021957.4:c.949G= MANE Select	NP_068776.2:p.Asp317=
XM_006719063.3:c.718G=	XP_006719126.1:p.Asp240=
XM_017019245.2:c.949G=	XP_016874734.1:p.Asp317=
XM_024448960.1:c.949G=	XP_024304728.1:p.Asp317=