Canonical Allele Identifier: CA375577680

Gene: AGPAT2

Linked Data

• dbSNP Id: rs1255380257
• gnomAD v2: 9-139568356-C-T
• MyVariant Identifiers: chr9:g.139568356C>T (hg19) ; chr9:g.136673904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673904C>T , CM000671.2:g.136673904C>T	GRCh38
NC_000009.11:g.139568356C>T , CM000671.1:g.139568356C>T	GRCh37
NC_000009.10:g.138688177C>T	NCBI36
NG_008090.1:g.18556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.685G>A MANE Select	ENSP00000360761.2:p.Glu229Lys
ENST00000371694.7:c.589G>A	ENSP00000360759.3:p.Glu197Lys
ENST00000371696.6:c.685G>A	ENSP00000360761.2:p.Glu229Lys
ENST00000472820.1:n.613G>A
ENST00000538402.1:c.685G>A	ENSP00000438919.1:p.Glu229Lys
NM_001012727.1:c.589G>A	NP_001012745.1:p.Glu197Lys
NM_006412.3:c.685G>A	NP_006403.2:p.Glu229Lys
NM_006412.4:c.685G>A MANE Select	NP_006403.2:p.Glu229Lys
NM_001012727.2:c.589G>A	NP_001012745.1:p.Glu197Lys