Canonical Allele Identifier: CA6480044

Gene: GYS2

Linked Data

• dbSNP Id: rs765931285
• ExAC: 12:21716009 TACA / T
• gnomAD v2: 12-21716009-TACA-T
• gnomAD v3: 12-21563075-TACA-T
• gnomAD v4: 12-21563075-TACA-T
• MyVariant Identifiers: chr12:g.21716010_21716012del (hg19) ; chr12:g.21563076_21563078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563076_21563078del , CM000674.2:g.21563076_21563078del	GRCh38
NC_000012.11:g.21716010_21716012del , CM000674.1:g.21716010_21716012del	GRCh37
NC_000012.10:g.21607277_21607279del	NCBI36
NG_016167.1:g.46770_46772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-40_942-38del MANE Select	ENSP00000261195.2:n.942-40_942-38del
ENST00000647960.1:c.*944-40_*944-38del	ENSP00000497202.1:n.*944-40_*944-38del
ENST00000648372.1:n.869-40_869-38del
ENST00000261195.2:c.942-40_942-38del	ENSP00000261195.2:n.942-40_942-38del
NM_021957.3:c.942-40_942-38del	NP_068776.2:n.942-40_942-38del
XM_005253352.1:c.942-40_942-38del	XP_005253409.1:n.942-40_942-38del
XM_005253354.2:c.723-40_723-38del	XP_005253411.1:n.723-40_723-38del
XM_006719062.2:c.942-40_942-38del	XP_006719125.1:n.942-40_942-38del
XM_006719063.2:c.711-40_711-38del	XP_006719126.1:n.711-40_711-38del
NM_021957.4:c.942-40_942-38del MANE Select	NP_068776.2:n.942-40_942-38del
XM_006719063.3:c.711-40_711-38del	XP_006719126.1:n.711-40_711-38del
XM_017019245.2:c.942-40_942-38del	XP_016874734.1:n.942-40_942-38del
XM_024448960.1:c.942-40_942-38del	XP_024304728.1:n.942-40_942-38del