Canonical Allele Identifier: CA2579519881
Gene: AGPAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673847_136673848del , CM000671.2:g.136673847_136673848del GRCh38
NC_000009.11:g.139568299_139568300del , CM000671.1:g.139568299_139568300del GRCh37
NC_000009.10:g.138688120_138688121del NCBI36
NG_008090.1:g.18612_18613del

Transcript Alleles

HGVS Amino-acid change
ENST00000371696.7:c.741_742del MANE Select ENSP00000360761.2:p.Cys248ProfsTer?
ENST00000371694.7:c.645_646del ENSP00000360759.3:p.Cys216ProfsTer?
ENST00000371696.6:c.741_742del ENSP00000360761.2:p.Cys248ProfsTer?
ENST00000472820.1:n.669_670del
ENST00000538402.1:c.741_742del ENSP00000438919.1:p.Cys248ProfsTer?
NM_001012727.1:c.645_646del NP_001012745.1:p.Cys216ProfsTer?
NM_006412.3:c.741_742del NP_006403.2:p.Cys248ProfsTer?
NM_006412.4:c.741_742del MANE Select NP_006403.2:p.Cys248ProfsTer?
NM_001012727.2:c.645_646del NP_001012745.1:p.Cys216ProfsTer?