Canonical Allele Identifier: CA2021178797

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562924C= , CM000674.2:g.21562924C=	GRCh38
NC_000012.11:g.21715858C= , CM000674.1:g.21715858C=	GRCh37
NC_000012.10:g.21607125C=	NCBI36
NG_016167.1:g.46924G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1056G= MANE Select	ENSP00000261195.2:p.Leu352=
ENST00000647960.1:c.*1058G=	ENSP00000497202.1:n.*1058G=
ENST00000648372.1:n.983G=
ENST00000261195.2:c.1056G=	ENSP00000261195.2:p.Leu352=
NM_021957.3:c.1056G=	NP_068776.2:p.Leu352=
XM_005253352.1:c.1056G=	XP_005253409.1:p.Leu352=
XM_005253354.2:c.837G=	XP_005253411.1:p.Leu279=
XM_006719062.2:c.1056G=	XP_006719125.1:p.Leu352=
XM_006719063.2:c.825G=	XP_006719126.1:p.Leu275=
NM_021957.4:c.1056G= MANE Select	NP_068776.2:p.Leu352=
XM_006719063.3:c.825G=	XP_006719126.1:p.Leu275=
XM_017019245.2:c.1056G=	XP_016874734.1:p.Leu352=
XM_024448960.1:c.1056G=	XP_024304728.1:p.Leu352=