Canonical Allele Identifier: CA2579519920
Gene: AGPAT2 HGNC NCBI

Linked Data

gnomAD v4: 9-136674741-TGAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136674745_136674747del , CM000671.2:g.136674745_136674747del GRCh38
NC_000009.11:g.139569197_139569199del , CM000671.1:g.139569197_139569199del GRCh37
NC_000009.10:g.138689018_138689020del NCBI36
NG_008090.1:g.17716_17718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.652_654del MANE Select ENSP00000360761.2:p.Phe218del
ENST00000371694.7:c.556_558del ENSP00000360759.3:p.Phe186del
ENST00000371696.6:c.652_654del ENSP00000360761.2:p.Phe218del
ENST00000472820.1:n.580_582del
ENST00000538402.1:c.652_654del ENSP00000438919.1:p.Phe218del
NM_001012727.1:c.556_558del NP_001012745.1:p.Phe186del
NM_006412.3:c.652_654del NP_006403.2:p.Phe218del
NM_006412.4:c.652_654del MANE Select NP_006403.2:p.Phe218del
NM_001012727.2:c.556_558del NP_001012745.1:p.Phe186del
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