Canonical Allele Identifier: CA16042192
Gene: AGPAT2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372113
ClinVar RCV Id: RCV000412504
dbSNP Id: rs1057517656

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673829_136673837del , CM000671.2:g.136673829_136673837del GRCh38
NC_000009.11:g.139568281_139568289del , CM000671.1:g.139568281_139568289del GRCh37
NC_000009.10:g.138688102_138688110del NCBI36
NG_008090.1:g.18626_18634del

Transcript Alleles

HGVS Amino-acid change
NM_001012727.1:c.659_667del VV NP_001012745.1:p.Met220_Thr222del
NM_006412.3:c.755_763del VV NP_006403.2:p.Met252_Thr254del
ENST00000371694.7:c.659_667del ENSP00000360759.3:p.Met220_Thr222del
ENST00000371696.6:c.755_763del ENSP00000360761.2:p.Met252_Thr254del
ENST00000472820.1:n.683_691del
ENST00000538402.1:c.755_763del ENSP00000438919.1:p.Met252_Thr254del