Canonical Allele Identifier: CA2617922902

Gene: GYS2

Linked Data

• gnomAD v4: 12-21546565-GAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546566_21546568del , CM000674.2:g.21546566_21546568del	GRCh38
NC_000012.11:g.21699500_21699502del , CM000674.1:g.21699500_21699502del	GRCh37
NC_000012.10:g.21590767_21590769del	NCBI36
NG_016167.1:g.63280_63282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1423-98_1423-96del MANE Select	ENSP00000261195.2:n.1423-98_1423-96del
ENST00000647960.1:c.*1425-98_*1425-96del	ENSP00000497202.1:n.*1425-98_*1425-96del
ENST00000261195.2:c.1423-98_1423-96del	ENSP00000261195.2:n.1423-98_1423-96del
NM_021957.3:c.1423-98_1423-96del	NP_068776.2:n.1423-98_1423-96del
XM_005253352.1:c.1423-98_1423-96del	XP_005253409.1:n.1423-98_1423-96del
XM_005253354.2:c.1204-98_1204-96del	XP_005253411.1:n.1204-98_1204-96del
XM_006719062.2:c.1423-98_1423-96del	XP_006719125.1:n.1423-98_1423-96del
XM_006719063.2:c.1192-98_1192-96del	XP_006719126.1:n.1192-98_1192-96del
NM_021957.4:c.1423-98_1423-96del MANE Select	NP_068776.2:n.1423-98_1423-96del
XM_006719063.3:c.1192-98_1192-96del	XP_006719126.1:n.1192-98_1192-96del
XM_024448960.1:c.1423-98_1423-96del	XP_024304728.1:n.1423-98_1423-96del