Canonical Allele Identifier: CA384132586

Gene: GYS2

Linked Data

• gnomAD v4: 12-21562971-T-C
• MyVariant Identifiers: chr12:g.21715905T>C (hg19) ; chr12:g.21562971T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562971T>C , CM000674.2:g.21562971T>C	GRCh38
NC_000012.11:g.21715905T>C , CM000674.1:g.21715905T>C	GRCh37
NC_000012.10:g.21607172T>C	NCBI36
NG_016167.1:g.46877A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1009A>G MANE Select	ENSP00000261195.2:p.Lys337Glu
ENST00000647960.1:c.*1011A>G	ENSP00000497202.1:n.*1011A>G
ENST00000648372.1:n.936A>G
ENST00000261195.2:c.1009A>G	ENSP00000261195.2:p.Lys337Glu
NM_021957.3:c.1009A>G	NP_068776.2:p.Lys337Glu
XM_005253352.1:c.1009A>G	XP_005253409.1:p.Lys337Glu
XM_005253354.2:c.790A>G	XP_005253411.1:p.Lys264Glu
XM_006719062.2:c.1009A>G	XP_006719125.1:p.Lys337Glu
XM_006719063.2:c.778A>G	XP_006719126.1:p.Lys260Glu
NM_021957.4:c.1009A>G MANE Select	NP_068776.2:p.Lys337Glu
XM_006719063.3:c.778A>G	XP_006719126.1:p.Lys260Glu
XM_017019245.2:c.1009A>G	XP_016874734.1:p.Lys337Glu
XM_024448960.1:c.1009A>G	XP_024304728.1:p.Lys337Glu