Canonical Allele Identifier: CA2573053146
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3065518
ClinVar RCV Id: RCV003990595
dbSNP Id: rs2131023674

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136687201del , CM000671.2:g.136687201del GRCh38
NC_000009.11:g.139581653del , CM000671.1:g.139581653del GRCh37
NC_000009.10:g.138701474del NCBI36
NG_008090.1:g.5260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.158del MANE Select ENSP00000360761.2:p.Gly53AlafsTer8
ENST00000371694.7:c.158del ENSP00000360759.3:p.Gly53AlafsTer8
ENST00000371696.6:c.158del ENSP00000360761.2:p.Gly53AlafsTer8
ENST00000470861.1:n.166del
ENST00000538402.1:c.158del ENSP00000438919.1:p.Gly53AlafsTer8
NM_001012727.1:c.158del NP_001012745.1:p.Gly53AlafsTer8
NM_006412.3:c.158del NP_006403.2:p.Gly53AlafsTer8
NM_006412.4:c.158del MANE Select NP_006403.2:p.Gly53AlafsTer8
NM_001012727.2:c.158del NP_001012745.1:p.Gly53AlafsTer8