Canonical Allele Identifier: CA320440

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21580346C>T , CM000674.2:g.21580346C>T	GRCh38
NC_000012.11:g.21733280C>T , CM000674.1:g.21733280C>T	GRCh37
NC_000012.10:g.21624547C>T	NCBI36
NG_016167.1:g.29502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.299G>A MANE Select	ENSP00000261195.2:p.Cys100Tyr
ENST00000647960.1:c.*301G>A	ENSP00000497202.1:n.*301G>A
ENST00000648372.1:n.284G>A
ENST00000261195.2:c.299G>A	ENSP00000261195.2:p.Cys100Tyr
NM_021957.3:c.299G>A	NP_068776.2:p.Cys100Tyr
XM_005253352.1:c.299G>A	XP_005253409.1:p.Cys100Tyr
XM_005253354.2:c.80G>A	XP_005253411.1:p.Cys27Tyr
XM_006719062.2:c.299G>A	XP_006719125.1:p.Cys100Tyr
NM_021957.4:c.299G>A MANE Select	NP_068776.2:p.Cys100Tyr
XM_017019245.2:c.299G>A	XP_016874734.1:p.Cys100Tyr
XM_024448960.1:c.299G>A	XP_024304728.1:p.Cys100Tyr