Canonical Allele Identifier: CA2021167103

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546493_21546497delinsTAAAA , CM000674.2:g.21546493_21546497delinsTAAAA	GRCh38
NC_000012.11:g.21699427_21699431delinsTAAAA , CM000674.1:g.21699427_21699431delinsTAAAA	GRCh37
NC_000012.10:g.21590694_21590698delinsTAAAA	NCBI36
NG_016167.1:g.63351_63355delinsTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1423-27_1423-23delinsTTTTA MANE Select	ENSP00000261195.2:n.1423-27_1423-23delinsTTTTA
ENST00000647960.1:c.*1425-27_*1425-23delinsTTTTA	ENSP00000497202.1:n.*1425-27_*1425-23delinsTTTTA
ENST00000261195.2:c.1423-27_1423-23delinsTTTTA	ENSP00000261195.2:n.1423-27_1423-23delinsTTTTA
NM_021957.3:c.1423-27_1423-23delinsTTTTA	NP_068776.2:n.1423-27_1423-23delinsTTTTA
XM_005253352.1:c.1423-27_1423-23delinsTTTTA	XP_005253409.1:n.1423-27_1423-23delinsTTTTA
XM_005253354.2:c.1204-27_1204-23delinsTTTTA	XP_005253411.1:n.1204-27_1204-23delinsTTTTA
XM_006719062.2:c.1423-27_1423-23delinsTTTTA	XP_006719125.1:n.1423-27_1423-23delinsTTTTA
XM_006719063.2:c.1192-27_1192-23delinsTTTTA	XP_006719126.1:n.1192-27_1192-23delinsTTTTA
NM_021957.4:c.1423-27_1423-23delinsTTTTA MANE Select	NP_068776.2:n.1423-27_1423-23delinsTTTTA
XM_006719063.3:c.1192-27_1192-23delinsTTTTA	XP_006719126.1:n.1192-27_1192-23delinsTTTTA
XM_024448960.1:c.1423-27_1423-23delinsTTTTA	XP_024304728.1:n.1423-27_1423-23delinsTTTTA