Canonical Allele Identifier: CA5342831

Gene: AGPAT2

Linked Data

• dbSNP Id: rs372240340
• ExAC: 9:139568294 G / A
• gnomAD v2: 9-139568294-G-A
• gnomAD v3: 9-136673842-G-A
• gnomAD v4: 9-136673842-G-A
• MyVariant Identifiers: chr9:g.139568294G>A (hg19) ; chr9:g.136673842G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673842G>A , CM000671.2:g.136673842G>A	GRCh38
NC_000009.11:g.139568294G>A , CM000671.1:g.139568294G>A	GRCh37
NC_000009.10:g.138688115G>A	NCBI36
NG_008090.1:g.18618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.747C>T MANE Select	ENSP00000360761.2:p.His249=
ENST00000371694.7:c.651C>T	ENSP00000360759.3:p.His217=
ENST00000371696.6:c.747C>T	ENSP00000360761.2:p.His249=
ENST00000472820.1:n.675C>T
ENST00000538402.1:c.747C>T	ENSP00000438919.1:p.His249=
NM_001012727.1:c.651C>T	NP_001012745.1:p.His217=
NM_006412.3:c.747C>T	NP_006403.2:p.His249=
NM_006412.4:c.747C>T MANE Select	NP_006403.2:p.His249=
NM_001012727.2:c.651C>T	NP_001012745.1:p.His217=