Canonical Allele Identifier: CA6480038

Gene: GYS2

Linked Data

• ClinVar Variation Id: 308001
• ClinVar RCV Id: RCV000357527
• dbSNP Id: rs367916210
• ExAC: 12:21715984 C / T
• gnomAD v2: 12-21715984-C-T
• gnomAD v3: 12-21563050-C-T
• gnomAD v4: 12-21563050-C-T
• MyVariant Identifiers: chr12:g.21715984C>T (hg19) ; chr12:g.21563050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563050C>T , CM000674.2:g.21563050C>T	GRCh38
NC_000012.11:g.21715984C>T , CM000674.1:g.21715984C>T	GRCh37
NC_000012.10:g.21607251C>T	NCBI36
NG_016167.1:g.46798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-12G>A MANE Select	ENSP00000261195.2:n.942-12G>A
ENST00000647960.1:c.*944-12G>A	ENSP00000497202.1:n.*944-12G>A
ENST00000648372.1:n.869-12G>A
ENST00000261195.2:c.942-12G>A	ENSP00000261195.2:n.942-12G>A
NM_021957.3:c.942-12G>A	NP_068776.2:n.942-12G>A
XM_005253352.1:c.942-12G>A	XP_005253409.1:n.942-12G>A
XM_005253354.2:c.723-12G>A	XP_005253411.1:n.723-12G>A
XM_006719062.2:c.942-12G>A	XP_006719125.1:n.942-12G>A
XM_006719063.2:c.711-12G>A	XP_006719126.1:n.711-12G>A
NM_021957.4:c.942-12G>A MANE Select	NP_068776.2:n.942-12G>A
XM_006719063.3:c.711-12G>A	XP_006719126.1:n.711-12G>A
XM_017019245.2:c.942-12G>A	XP_016874734.1:n.942-12G>A
XM_024448960.1:c.942-12G>A	XP_024304728.1:n.942-12G>A