Canonical Allele Identifier: CA2580080924

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 2170449
• ClinVar RCV Id: RCV003228120 ; RCV003095511 ; RCV003963649

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136674749_136674750delinsAA , CM000671.2:g.136674749_136674750delinsAA	GRCh38
NC_000009.11:g.139569201_139569202delinsAA , CM000671.1:g.139569201_139569202delinsAA	GRCh37
NC_000009.10:g.138689022_138689023delinsAA	NCBI36
NG_008090.1:g.17710_17711delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.646_647delinsTT MANE Select	ENSP00000360761.2:p.Lys216Leu
ENST00000371694.7:c.550_551delinsTT	ENSP00000360759.3:p.Lys184Leu
ENST00000371696.6:c.646_647delinsTT	ENSP00000360761.2:p.Lys216Leu
ENST00000472820.1:n.574_575delinsTT
ENST00000538402.1:c.646_647delinsTT	ENSP00000438919.1:p.Lys216Leu
NM_001012727.1:c.550_551delinsTT	NP_001012745.1:p.Lys184Leu
NM_006412.3:c.646_647delinsTT	NP_006403.2:p.Lys216Leu
NM_006412.4:c.646_647delinsTT MANE Select	NP_006403.2:p.Lys216Leu
NM_001012727.2:c.550_551delinsTT	NP_001012745.1:p.Lys184Leu