Canonical Allele Identifier: CA5342820
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 365917
ClinVar RCV Id: RCV000349526
dbSNP Id: rs761143874
ExAC: 9:139568258 C / T
gnomAD v2: 9-139568258-C-T
gnomAD v3: 9-136673806-C-T
gnomAD v4: 9-136673806-C-T
MyVariant Identifiers: chr9:g.139568258C>T (hg19) chr9:g.136673806C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673806C>T , CM000671.2:g.136673806C>T GRCh38
NC_000009.11:g.139568258C>T , CM000671.1:g.139568258C>T GRCh37
NC_000009.10:g.138688079C>T NCBI36
NG_008090.1:g.18654G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.783G>A MANE Select ENSP00000360761.2:p.Lys261=
ENST00000371694.7:c.687G>A ENSP00000360759.3:p.Lys229=
ENST00000371696.6:c.783G>A ENSP00000360761.2:p.Lys261=
ENST00000472820.1:n.711G>A
ENST00000538402.1:c.783G>A ENSP00000438919.1:p.Lys261=
NM_001012727.1:c.687G>A NP_001012745.1:p.Lys229=
NM_006412.3:c.783G>A NP_006403.2:p.Lys261=
NM_006412.4:c.783G>A MANE Select NP_006403.2:p.Lys261=
NM_001012727.2:c.687G>A NP_001012745.1:p.Lys229=
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