Canonical Allele Identifier: CA5342834
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 365919
ClinVar RCV Id: RCV000291123 RCV002524594 RCV003922645
dbSNP Id: rs200288462
ExAC: 9:139568309 G / A
gnomAD v2: 9-139568309-G-A
gnomAD v3: 9-136673857-G-A
gnomAD v4: 9-136673857-G-A
COSMIC: COSM3367646
MyVariant Identifiers: chr9:g.139568309G>A (hg19) chr9:g.136673857G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673857G>A , CM000671.2:g.136673857G>A GRCh38
NC_000009.11:g.139568309G>A , CM000671.1:g.139568309G>A GRCh37
NC_000009.10:g.138688130G>A NCBI36
NG_008090.1:g.18603C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.732C>T MANE Select ENSP00000360761.2:p.Leu244=
ENST00000371694.7:c.636C>T ENSP00000360759.3:p.Leu212=
ENST00000371696.6:c.732C>T ENSP00000360761.2:p.Leu244=
ENST00000472820.1:n.660C>T
ENST00000538402.1:c.732C>T ENSP00000438919.1:p.Leu244=
NM_001012727.1:c.636C>T NP_001012745.1:p.Leu212=
NM_006412.3:c.732C>T NP_006403.2:p.Leu244=
NM_006412.4:c.732C>T MANE Select NP_006403.2:p.Leu244=
NM_001012727.2:c.636C>T NP_001012745.1:p.Leu212=
Search 100 bp 5'
Search 100 bp 3'