Canonical Allele Identifier: CA384135610

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21568954T>C , CM000674.2:g.21568954T>C	GRCh38
NC_000012.11:g.21721888T>C , CM000674.1:g.21721888T>C	GRCh37
NC_000012.10:g.21613155T>C	NCBI36
NG_016167.1:g.40894A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021957.4:c.734A>G MANE Select	NP_068776.2:p.Glu245Gly
ENST00000261195.3:c.734A>G MANE Select	ENSP00000261195.2:p.Glu245Gly
NM_021957.3:c.734A>G	NP_068776.2:p.Glu245Gly
ENST00000261195.2:c.734A>G	ENSP00000261195.2:p.Glu245Gly
ENST00000647960.1:c.*736A>G	ENSP00000497202.1:n.*736A>G
ENST00000648372.1:n.661A>G
XM_005253352.1:c.734A>G	XP_005253409.1:p.Glu245Gly
XM_005253354.2:c.515A>G	XP_005253411.1:p.Glu172Gly
XM_006719062.2:c.734A>G	XP_006719125.1:p.Glu245Gly
XM_006719063.2:c.503A>G	XP_006719126.1:p.Glu168Gly
XM_006719063.3:c.503A>G	XP_006719126.1:p.Glu168Gly
XM_017019245.2:c.734A>G	XP_016874734.1:p.Glu245Gly
XM_024448960.1:c.734A>G	XP_024304728.1:p.Glu245Gly