Canonical Allele Identifier: CA201641437
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2078657
ClinVar RCV Id: RCV002988750
dbSNP Id: rs972288593
gnomAD v2: 9-139581691-A-G
gnomAD v3: 9-136687239-A-G
gnomAD v4: 9-136687239-A-G
MyVariant Identifiers: chr9:g.139581691A>G (hg19) chr9:g.136687239A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136687239A>G , CM000671.2:g.136687239A>G GRCh38
NC_000009.11:g.139581691A>G , CM000671.1:g.139581691A>G GRCh37
NC_000009.10:g.138701512A>G NCBI36
NG_008090.1:g.5221T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.119T>C MANE Select ENSP00000360761.2:p.Val40Ala
ENST00000371694.7:c.119T>C ENSP00000360759.3:p.Val40Ala
ENST00000371696.6:c.119T>C ENSP00000360761.2:p.Val40Ala
ENST00000470861.1:n.127T>C
ENST00000538402.1:c.119T>C ENSP00000438919.1:p.Val40Ala
NM_001012727.1:c.119T>C NP_001012745.1:p.Val40Ala
NM_006412.3:c.119T>C NP_006403.2:p.Val40Ala
NM_006412.4:c.119T>C MANE Select NP_006403.2:p.Val40Ala
NM_001012727.2:c.119T>C NP_001012745.1:p.Val40Ala
Search 100 bp 5'
Search 100 bp 3'