Canonical Allele Identifier: CA591367880

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 591456
• ClinVar RCV Id: RCV000722635
• dbSNP Id: rs745429291
• gnomAD v2: 9-139581758-C-CCAGCAG
• gnomAD v4: 9-136687306-C-CCAGCAG
• MyVariant Identifiers: chr9:g.139581767_139581768insCAGCAG (hg19) ; chr9:g.136687315_136687316insCAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136687315_136687320dup , CM000671.2:g.136687315_136687320dup	GRCh38
NC_000009.11:g.139581767_139581772dup , CM000671.1:g.139581767_139581772dup	GRCh37
NC_000009.10:g.138701588_138701593dup	NCBI36
NG_008090.1:g.5148_5153dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.46_51dup MANE Select	ENSP00000360761.2:p.Leu17_Val18insLeuLeu
ENST00000371694.7:c.46_51dup	ENSP00000360759.3:p.Leu17_Val18insLeuLeu
ENST00000371696.6:c.46_51dup	ENSP00000360761.2:p.Leu17_Val18insLeuLeu
ENST00000470861.1:n.54_59dup
ENST00000538402.1:c.46_51dup	ENSP00000438919.1:p.Leu17_Val18insLeuLeu
NM_001012727.1:c.46_51dup	NP_001012745.1:p.Leu17_Val18insLeuLeu
NM_006412.3:c.46_51dup	NP_006403.2:p.Leu17_Val18insLeuLeu
NM_006412.4:c.46_51dup MANE Select	NP_006403.2:p.Leu17_Val18insLeuLeu
NM_001012727.2:c.46_51dup	NP_001012745.1:p.Leu17_Val18insLeuLeu