Canonical Allele Identifier: CA2579519878

Gene: AGPAT2

Linked Data

• gnomAD v4: 9-136673840-C-CGGTGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673845_136673851dup , CM000671.2:g.136673845_136673851dup	GRCh38
NC_000009.11:g.139568297_139568303dup , CM000671.1:g.139568297_139568303dup	GRCh37
NC_000009.10:g.138688118_138688124dup	NCBI36
NG_008090.1:g.18613_18619dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.742_748dup MANE Select	ENSP00000360761.2:p.Arg250LeufsTer?
ENST00000371694.7:c.646_652dup	ENSP00000360759.3:p.Arg218LeufsTer?
ENST00000371696.6:c.742_748dup	ENSP00000360761.2:p.Arg250LeufsTer?
ENST00000472820.1:n.670_676dup
ENST00000538402.1:c.742_748dup	ENSP00000438919.1:p.Arg250LeufsTer?
NM_001012727.1:c.646_652dup	NP_001012745.1:p.Arg218LeufsTer?
NM_006412.3:c.742_748dup	NP_006403.2:p.Arg250LeufsTer?
NM_006412.4:c.742_748dup MANE Select	NP_006403.2:p.Arg250LeufsTer?
NM_001012727.2:c.646_652dup	NP_001012745.1:p.Arg218LeufsTer?