Canonical Allele Identifier: CA2579520095

Gene: AGPAT2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136687310_136687311insTGCACCAGCAGC , CM000671.2:g.136687310_136687311insTGCACCAGCAGC	GRCh38
NC_000009.11:g.139581762_139581763insTGCACCAGCAGC , CM000671.1:g.139581762_139581763insTGCACCAGCAGC	GRCh37
NC_000009.10:g.138701583_138701584insTGCACCAGCAGC	NCBI36
NG_008090.1:g.5153_5154insCTGGTGCAGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.51_52insCTGGTGCAGCTG MANE Select	ENSP00000360761.2:p.Leu17_Val18insLeuValGlnLeu
ENST00000371694.7:c.51_52insCTGGTGCAGCTG	ENSP00000360759.3:p.Leu17_Val18insLeuValGlnLeu
ENST00000371696.6:c.51_52insCTGGTGCAGCTG	ENSP00000360761.2:p.Leu17_Val18insLeuValGlnLeu
ENST00000470861.1:n.59_60insCTGGTGCAGCTG
ENST00000538402.1:c.51_52insCTGGTGCAGCTG	ENSP00000438919.1:p.Leu17_Val18insLeuValGlnLeu
NM_001012727.1:c.51_52insCTGGTGCAGCTG	NP_001012745.1:p.Leu17_Val18insLeuValGlnLeu
NM_006412.3:c.51_52insCTGGTGCAGCTG	NP_006403.2:p.Leu17_Val18insLeuValGlnLeu
NM_006412.4:c.51_52insCTGGTGCAGCTG MANE Select	NP_006403.2:p.Leu17_Val18insLeuValGlnLeu
NM_001012727.2:c.51_52insCTGGTGCAGCTG	NP_001012745.1:p.Leu17_Val18insLeuValGlnLeu