Canonical Allele Identifier: CA2021179008

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563061_21563062delinsAG , CM000674.2:g.21563061_21563062delinsAG	GRCh38
NC_000012.11:g.21715995_21715996delinsAG , CM000674.1:g.21715995_21715996delinsAG	GRCh37
NC_000012.10:g.21607262_21607263delinsAG	NCBI36
NG_016167.1:g.46786_46787delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-24_942-23delinsCT MANE Select	ENSP00000261195.2:n.942-24_942-23delinsCT
ENST00000647960.1:c.*944-24_*944-23delinsCT	ENSP00000497202.1:n.*944-24_*944-23delinsCT
ENST00000648372.1:n.869-24_869-23delinsCT
ENST00000261195.2:c.942-24_942-23delinsCT	ENSP00000261195.2:n.942-24_942-23delinsCT
NM_021957.3:c.942-24_942-23delinsCT	NP_068776.2:n.942-24_942-23delinsCT
XM_005253352.1:c.942-24_942-23delinsCT	XP_005253409.1:n.942-24_942-23delinsCT
XM_005253354.2:c.723-24_723-23delinsCT	XP_005253411.1:n.723-24_723-23delinsCT
XM_006719062.2:c.942-24_942-23delinsCT	XP_006719125.1:n.942-24_942-23delinsCT
XM_006719063.2:c.711-24_711-23delinsCT	XP_006719126.1:n.711-24_711-23delinsCT
NM_021957.4:c.942-24_942-23delinsCT MANE Select	NP_068776.2:n.942-24_942-23delinsCT
XM_006719063.3:c.711-24_711-23delinsCT	XP_006719126.1:n.711-24_711-23delinsCT
XM_017019245.2:c.942-24_942-23delinsCT	XP_016874734.1:n.942-24_942-23delinsCT
XM_024448960.1:c.942-24_942-23delinsCT	XP_024304728.1:n.942-24_942-23delinsCT