Canonical Allele Identifier: CA5342818
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 434106
ClinVar RCV Id: RCV000500080
dbSNP Id: rs151215253
ExAC: 9:139568255 G / T
gnomAD v2: 9-139568255-G-T
gnomAD v3: 9-136673803-G-T
gnomAD v4: 9-136673803-G-T
MyVariant Identifiers: chr9:g.139568255G>T (hg19) chr9:g.136673803G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673803G>T , CM000671.2:g.136673803G>T GRCh38
NC_000009.11:g.139568255G>T , CM000671.1:g.139568255G>T GRCh37
NC_000009.10:g.138688076G>T NCBI36
NG_008090.1:g.18657C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.786C>A MANE Select ENSP00000360761.2:p.Thr262=
ENST00000371694.7:c.690C>A ENSP00000360759.3:p.Thr230=
ENST00000371696.6:c.786C>A ENSP00000360761.2:p.Thr262=
ENST00000472820.1:n.714C>A
ENST00000538402.1:c.786C>A ENSP00000438919.1:p.Thr262=
NM_001012727.1:c.690C>A NP_001012745.1:p.Thr230=
NM_006412.3:c.786C>A NP_006403.2:p.Thr262=
NM_006412.4:c.786C>A MANE Select NP_006403.2:p.Thr262=
NM_001012727.2:c.690C>A NP_001012745.1:p.Thr230=
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