Canonical Allele Identifier: CA5342848
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372112
ClinVar RCV Id: RCV000412633
dbSNP Id: rs200656731
ExAC: 9:139568328 G / C
gnomAD v2: 9-139568328-G-C
gnomAD v3: 9-136673876-G-C
gnomAD v4: 9-136673876-G-C
MyVariant Identifiers: chr9:g.139568328G>C (hg19) chr9:g.136673876G>C (hg38)
PubMed: PMID:20301391
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673876G>C , CM000671.2:g.136673876G>C GRCh38
NC_000009.11:g.139568328G>C , CM000671.1:g.139568328G>C GRCh37
NC_000009.10:g.138688149G>C NCBI36
NG_008090.1:g.18584C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.713C>G MANE Select ENSP00000360761.2:p.Ala238Gly
ENST00000371694.7:c.617C>G ENSP00000360759.3:p.Ala206Gly
ENST00000371696.6:c.713C>G ENSP00000360761.2:p.Ala238Gly
ENST00000472820.1:n.641C>G
ENST00000538402.1:c.713C>G ENSP00000438919.1:p.Ala238Gly
NM_001012727.1:c.617C>G NP_001012745.1:p.Ala206Gly
NM_006412.3:c.713C>G NP_006403.2:p.Ala238Gly
NM_006412.4:c.713C>G MANE Select NP_006403.2:p.Ala238Gly
NM_001012727.2:c.617C>G NP_001012745.1:p.Ala206Gly
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