Canonical Allele Identifier: CA375578988

Gene: AGPAT2

Linked Data

• gnomAD v4: 9-136674807-C-A
• MyVariant Identifiers: chr9:g.139569259C>A (hg19) ; chr9:g.136674807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136674807C>A , CM000671.2:g.136674807C>A	GRCh38
NC_000009.11:g.139569259C>A , CM000671.1:g.139569259C>A	GRCh37
NC_000009.10:g.138689080C>A	NCBI36
NG_008090.1:g.17653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.589G>T MANE Select	ENSP00000360761.2:p.Val197Leu
ENST00000371694.7:c.493G>T	ENSP00000360759.3:p.Val165Leu
ENST00000371696.6:c.589G>T	ENSP00000360761.2:p.Val197Leu
ENST00000472820.1:n.517G>T
ENST00000538402.1:c.589G>T	ENSP00000438919.1:p.Val197Leu
NM_001012727.1:c.493G>T	NP_001012745.1:p.Val165Leu
NM_006412.3:c.589G>T	NP_006403.2:p.Val197Leu
NM_006412.4:c.589G>T MANE Select	NP_006403.2:p.Val197Leu
NM_001012727.2:c.493G>T	NP_001012745.1:p.Val165Leu