Canonical Allele Identifier: CA861080682

Gene: AGPAT2

Linked Data

• dbSNP Id: rs1265976234
• gnomAD v3: 9-136673867-AC-A
• gnomAD v4: 9-136673867-AC-A
• MyVariant Identifiers: chr9:g.139568320del (hg19) ; chr9:g.136673868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673868del , CM000671.2:g.136673868del	GRCh38
NC_000009.11:g.139568320del , CM000671.1:g.139568320del	GRCh37
NC_000009.10:g.138688141del	NCBI36
NG_008090.1:g.18592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.721del MANE Select	ENSP00000360761.2:p.Val241SerfsTer12
ENST00000371694.7:c.625del	ENSP00000360759.3:p.Val209SerfsTer12
ENST00000371696.6:c.721del	ENSP00000360761.2:p.Val241SerfsTer12
ENST00000472820.1:n.649del
ENST00000538402.1:c.721del	ENSP00000438919.1:p.Val241SerfsTer12
NM_001012727.1:c.625del	NP_001012745.1:p.Val209SerfsTer12
NM_006412.3:c.721del	NP_006403.2:p.Val241SerfsTer12
NM_006412.4:c.721del MANE Select	NP_006403.2:p.Val241SerfsTer12
NM_001012727.2:c.625del	NP_001012745.1:p.Val209SerfsTer12