Canonical Allele Identifier: CA2021167068

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546469_21546470delinsAC , CM000674.2:g.21546469_21546470delinsAC	GRCh38
NC_000012.11:g.21699403_21699404delinsAC , CM000674.1:g.21699403_21699404delinsAC	GRCh37
NC_000012.10:g.21590670_21590671delinsAC	NCBI36
NG_016167.1:g.63378_63379delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1423_1424delinsGT MANE Select	ENSP00000261195.2:p.Val475=
ENST00000647960.1:c.*1425_*1426delinsGT	ENSP00000497202.1:n.*1425_*1426delinsGT
ENST00000261195.2:c.1423_1424delinsGT	ENSP00000261195.2:p.Val475=
NM_021957.3:c.1423_1424delinsGT	NP_068776.2:p.Val475=
XM_005253352.1:c.1423_1424delinsGT	XP_005253409.1:p.Val475=
XM_005253354.2:c.1204_1205delinsGT	XP_005253411.1:p.Val402=
XM_006719062.2:c.1423_1424delinsGT	XP_006719125.1:p.Val475=
XM_006719063.2:c.1192_1193delinsGT	XP_006719126.1:p.Val398=
NM_021957.4:c.1423_1424delinsGT MANE Select	NP_068776.2:p.Val475=
XM_006719063.3:c.1192_1193delinsGT	XP_006719126.1:p.Val398=
XM_024448960.1:c.1423_1424delinsGT	XP_024304728.1:p.Val475=