Canonical Allele Identifier: CA384132928

Gene: GYS2

Linked Data

• gnomAD v4: 12-21563003-A-C
• MyVariant Identifiers: chr12:g.21715937A>C (hg19) ; chr12:g.21563003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563003A>C , CM000674.2:g.21563003A>C	GRCh38
NC_000012.11:g.21715937A>C , CM000674.1:g.21715937A>C	GRCh37
NC_000012.10:g.21607204A>C	NCBI36
NG_016167.1:g.46845T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.977T>G MANE Select	ENSP00000261195.2:p.Leu326Arg
ENST00000647960.1:c.*979T>G	ENSP00000497202.1:n.*979T>G
ENST00000648372.1:n.904T>G
ENST00000261195.2:c.977T>G	ENSP00000261195.2:p.Leu326Arg
NM_021957.3:c.977T>G	NP_068776.2:p.Leu326Arg
XM_005253352.1:c.977T>G	XP_005253409.1:p.Leu326Arg
XM_005253354.2:c.758T>G	XP_005253411.1:p.Leu253Arg
XM_006719062.2:c.977T>G	XP_006719125.1:p.Leu326Arg
XM_006719063.2:c.746T>G	XP_006719126.1:p.Leu249Arg
NM_021957.4:c.977T>G MANE Select	NP_068776.2:p.Leu326Arg
XM_006719063.3:c.746T>G	XP_006719126.1:p.Leu249Arg
XM_017019245.2:c.977T>G	XP_016874734.1:p.Leu326Arg
XM_024448960.1:c.977T>G	XP_024304728.1:p.Leu326Arg