Canonical Allele Identifier: CA375581234
Gene: AGPAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1846093324
gnomAD v4: 9-136676649-C-T
MyVariant Identifiers: chr9:g.139571101C>T (hg19) chr9:g.136676649C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136676649C>T , CM000671.2:g.136676649C>T GRCh38
NC_000009.11:g.139571101C>T , CM000671.1:g.139571101C>T GRCh37
NC_000009.10:g.138690922C>T NCBI36
NG_008090.1:g.15811G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.524G>A MANE Select ENSP00000360761.2:p.Arg175His
ENST00000371694.7:c.492+312G>A ENSP00000360759.3:n.492+312G>A
ENST00000371696.6:c.524G>A ENSP00000360761.2:p.Arg175His
ENST00000472820.1:n.452G>A
ENST00000538402.1:c.524G>A ENSP00000438919.1:p.Arg175His
NM_001012727.1:c.492+312G>A NP_001012745.1:n.492+312G>A
NM_006412.3:c.524G>A NP_006403.2:p.Arg175His
NM_006412.4:c.524G>A MANE Select NP_006403.2:p.Arg175His
NM_001012727.2:c.492+312G>A NP_001012745.1:n.492+312G>A
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