Canonical Allele Identifier: CA233607350

Gene: GYS2

Linked Data

• dbSNP Id: rs994750236
• gnomAD v4: 12-21563156-A-G
• MyVariant Identifiers: chr12:g.21716090A>G (hg19) ; chr12:g.21563156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563156A>G , CM000674.2:g.21563156A>G	GRCh38
NC_000012.11:g.21716090A>G , CM000674.1:g.21716090A>G	GRCh37
NC_000012.10:g.21607357A>G	NCBI36
NG_016167.1:g.46692T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.941+72T>C MANE Select	ENSP00000261195.2:n.941+72T>C
ENST00000647960.1:c.*943+72T>C	ENSP00000497202.1:n.*943+72T>C
ENST00000648372.1:n.868+72T>C
ENST00000261195.2:c.941+72T>C	ENSP00000261195.2:n.941+72T>C
NM_021957.3:c.941+72T>C	NP_068776.2:n.941+72T>C
XM_005253352.1:c.941+72T>C	XP_005253409.1:n.941+72T>C
XM_005253354.2:c.722+72T>C	XP_005253411.1:n.722+72T>C
XM_006719062.2:c.941+72T>C	XP_006719125.1:n.941+72T>C
XM_006719063.2:c.710+72T>C	XP_006719126.1:n.710+72T>C
NM_021957.4:c.941+72T>C MANE Select	NP_068776.2:n.941+72T>C
XM_006719063.3:c.710+72T>C	XP_006719126.1:n.710+72T>C
XM_017019245.2:c.941+72T>C	XP_016874734.1:n.941+72T>C
XM_024448960.1:c.941+72T>C	XP_024304728.1:n.941+72T>C