Canonical Allele Identifier: CA478869027

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21558269G>A , CM000674.2:g.21558269G>A	GRCh38
NC_000012.11:g.21711203G>A , CM000674.1:g.21711203G>A	GRCh37
NC_000012.10:g.21602470G>A	NCBI36
NG_016167.1:g.51579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1353C>T MANE Select	ENSP00000261195.2:p.Asp451=
ENST00000647960.1:c.*1355C>T	ENSP00000497202.1:n.*1355C>T
ENST00000648372.1:n.1280C>T
ENST00000261195.2:c.1353C>T	ENSP00000261195.2:p.Asp451=
NM_021957.3:c.1353C>T	NP_068776.2:p.Asp451=
XM_005253352.1:c.1353C>T	XP_005253409.1:p.Asp451=
XM_005253354.2:c.1134C>T	XP_005253411.1:p.Asp378=
XM_006719062.2:c.1353C>T	XP_006719125.1:p.Asp451=
XM_006719063.2:c.1122C>T	XP_006719126.1:p.Asp374=
NM_021957.4:c.1353C>T MANE Select	NP_068776.2:p.Asp451=
XM_006719063.3:c.1122C>T	XP_006719126.1:p.Asp374=
XM_024448960.1:c.1353C>T	XP_024304728.1:p.Asp451=