Canonical Allele Identifier: CA478869557

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21715963G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563029G>A , CM000674.2:g.21563029G>A	GRCh38
NC_000012.11:g.21715963G>A , CM000674.1:g.21715963G>A	GRCh37
NC_000012.10:g.21607230G>A	NCBI36
NG_016167.1:g.46819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.951C>T MANE Select	ENSP00000261195.2:p.Asp317=
ENST00000647960.1:c.*953C>T	ENSP00000497202.1:n.*953C>T
ENST00000648372.1:n.878C>T
ENST00000261195.2:c.951C>T	ENSP00000261195.2:p.Asp317=
NM_021957.3:c.951C>T	NP_068776.2:p.Asp317=
XM_005253352.1:c.951C>T	XP_005253409.1:p.Asp317=
XM_005253354.2:c.732C>T	XP_005253411.1:p.Asp244=
XM_006719062.2:c.951C>T	XP_006719125.1:p.Asp317=
XM_006719063.2:c.720C>T	XP_006719126.1:p.Asp240=
NM_021957.4:c.951C>T MANE Select	NP_068776.2:p.Asp317=
XM_006719063.3:c.720C>T	XP_006719126.1:p.Asp240=
XM_017019245.2:c.951C>T	XP_016874734.1:p.Asp317=
XM_024448960.1:c.951C>T	XP_024304728.1:p.Asp317=