Canonical Allele Identifier: CA591367748

Gene: AGPAT2

Linked Data

• dbSNP Id: rs1588260921
• gnomAD v2: 9-139568293-G-GGTGGCAGGT
• gnomAD v4: 9-136673841-G-GGTGGCAGGT
• MyVariant Identifiers: chr9:g.139568293_139568294insGTGGCAGGT (hg19) ; chr9:g.136673841_136673842insGTGGCAGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673844_136673852dup , CM000671.2:g.136673844_136673852dup	GRCh38
NC_000009.11:g.139568296_139568304dup , CM000671.1:g.139568296_139568304dup	GRCh37
NC_000009.10:g.138688117_138688125dup	NCBI36
NG_008090.1:g.18610_18618dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.739_747dup MANE Select	ENSP00000360761.2:p.His249_Arg250insThrCysHis
ENST00000371694.7:c.643_651dup	ENSP00000360759.3:p.His217_Arg218insThrCysHis
ENST00000371696.6:c.739_747dup	ENSP00000360761.2:p.His249_Arg250insThrCysHis
ENST00000472820.1:n.667_675dup
ENST00000538402.1:c.739_747dup	ENSP00000438919.1:p.His249_Arg250insThrCysHis
NM_001012727.1:c.643_651dup	NP_001012745.1:p.His217_Arg218insThrCysHis
NM_006412.3:c.739_747dup	NP_006403.2:p.His249_Arg250insThrCysHis
NM_006412.4:c.739_747dup MANE Select	NP_006403.2:p.His249_Arg250insThrCysHis
NM_001012727.2:c.643_651dup	NP_001012745.1:p.His217_Arg218insThrCysHis