Canonical Allele Identifier: CA6479978

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21560398C>T , CM000674.2:g.21560398C>T	GRCh38
NC_000012.11:g.21713332C>T , CM000674.1:g.21713332C>T	GRCh37
NC_000012.10:g.21604599C>T	NCBI36
NG_016167.1:g.49450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1157G>A MANE Select	ENSP00000261195.2:p.Arg386Gln
ENST00000647960.1:c.*1159G>A	ENSP00000497202.1:n.*1159G>A
ENST00000648372.1:n.1084G>A
ENST00000261195.2:c.1157G>A	ENSP00000261195.2:p.Arg386Gln
NM_021957.3:c.1157G>A	NP_068776.2:p.Arg386Gln
XM_005253352.1:c.1157G>A	XP_005253409.1:p.Arg386Gln
XM_005253354.2:c.938G>A	XP_005253411.1:p.Arg313Gln
XM_006719062.2:c.1157G>A	XP_006719125.1:p.Arg386Gln
XM_006719063.2:c.926G>A	XP_006719126.1:p.Arg309Gln
NM_021957.4:c.1157G>A MANE Select	NP_068776.2:p.Arg386Gln
XM_006719063.3:c.926G>A	XP_006719126.1:p.Arg309Gln
XM_017019245.2:c.1157G>A	XP_016874734.1:p.Arg386Gln
XM_024448960.1:c.1157G>A	XP_024304728.1:p.Arg386Gln