Canonical Allele Identifier: CA201626858
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3096393
ClinVar RCV Id: RCV004392263
dbSNP Id: rs958545912
gnomAD v2: 9-139568301-G-A
gnomAD v3: 9-136673849-G-A
gnomAD v4: 9-136673849-G-A
MyVariant Identifiers: chr9:g.139568301G>A (hg19) chr9:g.136673849G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673849G>A , CM000671.2:g.136673849G>A GRCh38
NC_000009.11:g.139568301G>A , CM000671.1:g.139568301G>A GRCh37
NC_000009.10:g.138688122G>A NCBI36
NG_008090.1:g.18611C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.740C>T MANE Select ENSP00000360761.2:p.Thr247Ile
ENST00000371694.7:c.644C>T ENSP00000360759.3:p.Thr215Ile
ENST00000371696.6:c.740C>T ENSP00000360761.2:p.Thr247Ile
ENST00000472820.1:n.668C>T
ENST00000538402.1:c.740C>T ENSP00000438919.1:p.Thr247Ile
NM_001012727.1:c.644C>T NP_001012745.1:p.Thr215Ile
NM_006412.3:c.740C>T NP_006403.2:p.Thr247Ile
NM_006412.4:c.740C>T MANE Select NP_006403.2:p.Thr247Ile
NM_001012727.2:c.644C>T NP_001012745.1:p.Thr215Ile
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