Canonical Allele Identifier: CA467737204
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1950853
ClinVar RCV Id: RCV002681543
dbSNP Id: rs1249393698
gnomAD v2: 9-139568363-C-T
gnomAD v4: 9-136673911-C-T
MyVariant Identifiers: chr9:g.139568363C>T (hg19) chr9:g.136673911C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673911C>T , CM000671.2:g.136673911C>T GRCh38
NC_000009.11:g.139568363C>T , CM000671.1:g.139568363C>T GRCh37
NC_000009.10:g.138688184C>T NCBI36
NG_008090.1:g.18549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.678G>A MANE Select ENSP00000360761.2:p.Gln226=
ENST00000371694.7:c.582G>A ENSP00000360759.3:p.Gln194=
ENST00000371696.6:c.678G>A ENSP00000360761.2:p.Gln226=
ENST00000472820.1:n.606G>A
ENST00000538402.1:c.678G>A ENSP00000438919.1:p.Gln226=
NM_001012727.1:c.582G>A NP_001012745.1:p.Gln194=
NM_006412.3:c.678G>A NP_006403.2:p.Gln226=
NM_006412.4:c.678G>A MANE Select NP_006403.2:p.Gln226=
NM_001012727.2:c.582G>A NP_001012745.1:p.Gln194=
Search 100 bp 5'
Search 100 bp 3'