Canonical Allele Identifier: CA5342800
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 259975
ClinVar RCV Id: RCV000248668
dbSNP Id: rs375808894
ExAC: 9:139568194 G / A
gnomAD v2: 9-139568194-G-A
gnomAD v3: 9-136673742-G-A
gnomAD v4: 9-136673742-G-A
MyVariant Identifiers: chr9:g.139568194G>A (hg19) chr9:g.136673742G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673742G>A , CM000671.2:g.136673742G>A GRCh38
NC_000009.11:g.139568194G>A , CM000671.1:g.139568194G>A GRCh37
NC_000009.10:g.138688015G>A NCBI36
NG_008090.1:g.18718C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.*10C>T MANE Select ENSP00000360761.2:n.*10C>T
ENST00000371694.7:c.*10C>T ENSP00000360759.3:n.*10C>T
ENST00000371696.6:c.*10C>T ENSP00000360761.2:n.*10C>T
ENST00000472820.1:n.775C>T
ENST00000538402.1:c.*10C>T ENSP00000438919.1:n.*10C>T
NM_001012727.1:c.*10C>T NP_001012745.1:n.*10C>T
NM_006412.3:c.*10C>T NP_006403.2:n.*10C>T
NM_006412.4:c.*10C>T MANE Select NP_006403.2:n.*10C>T
NM_001012727.2:c.*10C>T NP_001012745.1:n.*10C>T
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