Canonical Allele Identifier: CA384133126

Gene: GYS2

Linked Data

• dbSNP Id: rs1475051645
• gnomAD v3: 12-21563018-T-G
• gnomAD v4: 12-21563018-T-G
• MyVariant Identifiers: chr12:g.21715952T>G (hg19) ; chr12:g.21563018T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563018T>G , CM000674.2:g.21563018T>G	GRCh38
NC_000012.11:g.21715952T>G , CM000674.1:g.21715952T>G	GRCh37
NC_000012.10:g.21607219T>G	NCBI36
NG_016167.1:g.46830A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.962A>C MANE Select	ENSP00000261195.2:p.Glu321Ala
ENST00000647960.1:c.*964A>C	ENSP00000497202.1:n.*964A>C
ENST00000648372.1:n.889A>C
ENST00000261195.2:c.962A>C	ENSP00000261195.2:p.Glu321Ala
NM_021957.3:c.962A>C	NP_068776.2:p.Glu321Ala
XM_005253352.1:c.962A>C	XP_005253409.1:p.Glu321Ala
XM_005253354.2:c.743A>C	XP_005253411.1:p.Glu248Ala
XM_006719062.2:c.962A>C	XP_006719125.1:p.Glu321Ala
XM_006719063.2:c.731A>C	XP_006719126.1:p.Glu244Ala
NM_021957.4:c.962A>C MANE Select	NP_068776.2:p.Glu321Ala
XM_006719063.3:c.731A>C	XP_006719126.1:p.Glu244Ala
XM_017019245.2:c.962A>C	XP_016874734.1:p.Glu321Ala
XM_024448960.1:c.962A>C	XP_024304728.1:p.Glu321Ala