Canonical Allele Identifier: CA467738219

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 2726442
• ClinVar RCV Id: RCV003554875
• gnomAD v4: 9-136674775-G-A
• MyVariant Identifiers: chr9:g.139569227G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136674775G>A , CM000671.2:g.136674775G>A	GRCh38
NC_000009.11:g.139569227G>A , CM000671.1:g.139569227G>A	GRCh37
NC_000009.10:g.138689048G>A	NCBI36
NG_008090.1:g.17685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.621C>T MANE Select	ENSP00000360761.2:p.Phe207=
ENST00000371694.7:c.525C>T	ENSP00000360759.3:p.Phe175=
ENST00000371696.6:c.621C>T	ENSP00000360761.2:p.Phe207=
ENST00000472820.1:n.549C>T
ENST00000538402.1:c.621C>T	ENSP00000438919.1:p.Phe207=
NM_001012727.1:c.525C>T	NP_001012745.1:p.Phe175=
NM_006412.3:c.621C>T	NP_006403.2:p.Phe207=
NM_006412.4:c.621C>T MANE Select	NP_006403.2:p.Phe207=
NM_001012727.2:c.525C>T	NP_001012745.1:p.Phe175=