Canonical Allele Identifier: CA2617922776

Gene: GYS2

Linked Data

• gnomAD v4: 12-21546472-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546477_21546478del , CM000674.2:g.21546477_21546478del	GRCh38
NC_000012.11:g.21699411_21699412del , CM000674.1:g.21699411_21699412del	GRCh37
NC_000012.10:g.21590678_21590679del	NCBI36
NG_016167.1:g.63374_63375del

Transcript Alleles

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