Canonical Allele Identifier: CA5342901
Gene: AGPAT2 HGNC NCBI

Linked Data

dbSNP Id: rs745818951
ExAC: 9:139569219 AAGG / A
gnomAD v2: 9-139569219-AAGG-A
gnomAD v3: 9-136674767-AAGG-A
gnomAD v4: 9-136674767-AAGG-A
MyVariant Identifiers: chr9:g.139569220_139569222del (hg19) chr9:g.136674768_136674770del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136674773_136674775del , CM000671.2:g.136674773_136674775del GRCh38
NC_000009.11:g.139569225_139569227del , CM000671.1:g.139569225_139569227del GRCh37
NC_000009.10:g.138689046_138689048del NCBI36
NG_008090.1:g.17690_17692del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.626_628del MANE Select ENSP00000360761.2:p.Ser209del
ENST00000371694.7:c.530_532del ENSP00000360759.3:p.Ser177del
ENST00000371696.6:c.626_628del ENSP00000360761.2:p.Ser209del
ENST00000472820.1:n.554_556del
ENST00000538402.1:c.626_628del ENSP00000438919.1:p.Ser209del
NM_001012727.1:c.530_532del NP_001012745.1:p.Ser177del
NM_006412.3:c.626_628del NP_006403.2:p.Ser209del
NM_006412.4:c.626_628del MANE Select NP_006403.2:p.Ser209del
NM_001012727.2:c.530_532del NP_001012745.1:p.Ser177del
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