Canonical Allele Identifier: CA1130022144
Gene: AGPAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1846237097
gnomAD v3: 9-136687347-C-CAA
gnomAD v4: 9-136687347-C-CAA
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136687348_136687349insAA , CM000671.2:g.136687348_136687349insAA GRCh38
NC_000009.11:g.139581800_139581801insAA , CM000671.1:g.139581800_139581801insAA GRCh37
NC_000009.10:g.138701621_138701622insAA NCBI36
NG_008090.1:g.5112_5113insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.10_11insTT MANE Select ENSP00000360761.2:p.Trp4PhefsTer18
ENST00000371694.7:c.10_11insTT ENSP00000360759.3:p.Trp4PhefsTer18
ENST00000371696.6:c.10_11insTT ENSP00000360761.2:p.Trp4PhefsTer18
ENST00000470861.1:n.18_19insTT
ENST00000538402.1:c.10_11insTT ENSP00000438919.1:p.Trp4PhefsTer18
NM_001012727.1:c.10_11insTT NP_001012745.1:p.Trp4PhefsTer18
NM_006412.3:c.10_11insTT NP_006403.2:p.Trp4PhefsTer18
NM_006412.4:c.10_11insTT MANE Select NP_006403.2:p.Trp4PhefsTer18
NM_001012727.2:c.10_11insTT NP_001012745.1:p.Trp4PhefsTer18
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