Canonical Allele Identifier: CA2617922738

Gene: GYS2

Linked Data

• gnomAD v4: 12-21546462-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546466del , CM000674.2:g.21546466del	GRCh38
NC_000012.11:g.21699400del , CM000674.1:g.21699400del	GRCh37
NC_000012.10:g.21590667del	NCBI36
NG_016167.1:g.63385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1430del MANE Select	ENSP00000261195.2:p.Leu477CysfsTer?
ENST00000647960.1:c.*1432del	ENSP00000497202.1:n.*1432del
ENST00000261195.2:c.1430del	ENSP00000261195.2:p.Leu477CysfsTer?
NM_021957.3:c.1430del	NP_068776.2:p.Leu477CysfsTer?
XM_005253352.1:c.1430del	XP_005253409.1:p.Leu477CysfsTer?
XM_005253354.2:c.1211del	XP_005253411.1:p.Leu404CysfsTer?
XM_006719062.2:c.1430del	XP_006719125.1:p.Leu477CysfsTer?
XM_006719063.2:c.1199del	XP_006719126.1:p.Leu400CysfsTer?
NM_021957.4:c.1430del MANE Select	NP_068776.2:p.Leu477CysfsTer?
XM_006719063.3:c.1199del	XP_006719126.1:p.Leu400CysfsTer?
XM_024448960.1:c.1430del	XP_024304728.1:p.Leu477CysfsTer?