Canonical Allele Identifier: CA2692653764
Gene: AGPAT2 HGNC NCBI

Linked Data

gnomAD v4: 9-136673864-G-GGGACGTCCGCCTCACT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673875_136673876insTCACTGGACGTCCGCC , CM000671.2:g.136673875_136673876insTCACTGGACGTCCGCC GRCh38
NC_000009.11:g.139568327_139568328insTCACTGGACGTCCGCC , CM000671.1:g.139568327_139568328insTCACTGGACGTCCGCC GRCh37
NC_000009.10:g.138688148_138688149insTCACTGGACGTCCGCC NCBI36
NG_008090.1:g.18595_18596insAGTGAGGCGGACGTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.724_725insAGTGAGGCGGACGTCC MANE Select ENSP00000360761.2:p.Pro242GlnfsTer2
ENST00000371694.7:c.628_629insAGTGAGGCGGACGTCC ENSP00000360759.3:p.Pro210GlnfsTer2
ENST00000371696.6:c.724_725insAGTGAGGCGGACGTCC ENSP00000360761.2:p.Pro242GlnfsTer2
ENST00000472820.1:n.652_653insAGTGAGGCGGACGTCC
ENST00000538402.1:c.724_725insAGTGAGGCGGACGTCC ENSP00000438919.1:p.Pro242GlnfsTer2
NM_001012727.1:c.628_629insAGTGAGGCGGACGTCC NP_001012745.1:p.Pro210GlnfsTer2
NM_006412.3:c.724_725insAGTGAGGCGGACGTCC NP_006403.2:p.Pro242GlnfsTer2
NM_006412.4:c.724_725insAGTGAGGCGGACGTCC MANE Select NP_006403.2:p.Pro242GlnfsTer2
NM_001012727.2:c.628_629insAGTGAGGCGGACGTCC NP_001012745.1:p.Pro210GlnfsTer2
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