Canonical Allele Identifier: CA375577678
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1285417
ClinVar RCV Id: RCV001706773
dbSNP Id: rs1255380257
gnomAD v4: 9-136673904-C-A
MyVariant Identifiers: chr9:g.139568356C>A (hg19) chr9:g.136673904C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.685G>T MANE Select ENSP00000360761.2:p.Glu229Ter
ENST00000371694.7:c.589G>T ENSP00000360759.3:p.Glu197Ter
ENST00000371696.6:c.685G>T ENSP00000360761.2:p.Glu229Ter
ENST00000472820.1:n.613G>T
ENST00000538402.1:c.685G>T ENSP00000438919.1:p.Glu229Ter
NM_001012727.1:c.589G>T NP_001012745.1:p.Glu197Ter
NM_006412.3:c.685G>T NP_006403.2:p.Glu229Ter
NM_006412.4:c.685G>T MANE Select NP_006403.2:p.Glu229Ter
NM_001012727.2:c.589G>T NP_001012745.1:p.Glu197Ter
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