Canonical Allele Identifier: CA5343178
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 259977
ClinVar RCV Id: RCV000249797 RCV000346337 RCV001651194
dbSNP Id: rs745429291
ExAC: 9:139581758 C / CCAG
gnomAD v2: 9-139581758-C-CCAG
gnomAD v3: 9-136687306-C-CCAG
gnomAD v4: 9-136687306-C-CCAG
COSMIC: COSM5446564 COSM5826488
MyVariant Identifiers: chr9:g.139581759_139581761dupCAG (hg19) chr9:g.139581767_139581768insCAG (hg19) chr9:g.139581761_139581762insCAG (hg19) chr9:g.139581758_139581759insCAG (hg19) chr9:g.136687307_136687309dupCAG (hg38) chr9:g.136687315_136687316insCAG (hg38) chr9:g.136687306_136687307insCAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136687318_136687320dup , CM000671.2:g.136687318_136687320dup GRCh38
NC_000009.11:g.139581770_139581772dup , CM000671.1:g.139581770_139581772dup GRCh37
NC_000009.10:g.138701591_138701593dup NCBI36
NG_008090.1:g.5151_5153dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.49_51dup MANE Select ENSP00000360761.2:p.Leu17_Val18insLeu
ENST00000371694.7:c.49_51dup ENSP00000360759.3:p.Leu17_Val18insLeu
ENST00000371696.6:c.49_51dup ENSP00000360761.2:p.Leu17_Val18insLeu
ENST00000470861.1:n.57_59dup
ENST00000538402.1:c.49_51dup ENSP00000438919.1:p.Leu17_Val18insLeu
NM_001012727.1:c.49_51dup NP_001012745.1:p.Leu17_Val18insLeu
NM_006412.3:c.49_51dup NP_006403.2:p.Leu17_Val18insLeu
NM_006412.4:c.49_51dup MANE Select NP_006403.2:p.Leu17_Val18insLeu
NM_001012727.2:c.49_51dup NP_001012745.1:p.Leu17_Val18insLeu
Search 100 bp 5'
Search 100 bp 3'