Canonical Allele Identifier: CA233607339

Gene: GYS2

Linked Data

• dbSNP Id: rs771262775
• gnomAD v3: 12-21563154-C-G
• gnomAD v4: 12-21563154-C-G
• MyVariant Identifiers: chr12:g.21716088C>G (hg19) ; chr12:g.21563154C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563154C>G , CM000674.2:g.21563154C>G	GRCh38
NC_000012.11:g.21716088C>G , CM000674.1:g.21716088C>G	GRCh37
NC_000012.10:g.21607355C>G	NCBI36
NG_016167.1:g.46694G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.941+74G>C MANE Select	ENSP00000261195.2:n.941+74G>C
ENST00000647960.1:c.*943+74G>C	ENSP00000497202.1:n.*943+74G>C
ENST00000648372.1:n.868+74G>C
ENST00000261195.2:c.941+74G>C	ENSP00000261195.2:n.941+74G>C
NM_021957.3:c.941+74G>C	NP_068776.2:n.941+74G>C
XM_005253352.1:c.941+74G>C	XP_005253409.1:n.941+74G>C
XM_005253354.2:c.722+74G>C	XP_005253411.1:n.722+74G>C
XM_006719062.2:c.941+74G>C	XP_006719125.1:n.941+74G>C
XM_006719063.2:c.710+74G>C	XP_006719126.1:n.710+74G>C
NM_021957.4:c.941+74G>C MANE Select	NP_068776.2:n.941+74G>C
XM_006719063.3:c.710+74G>C	XP_006719126.1:n.710+74G>C
XM_017019245.2:c.941+74G>C	XP_016874734.1:n.941+74G>C
XM_024448960.1:c.941+74G>C	XP_024304728.1:n.941+74G>C