Canonical Allele Identifier: CA2692653757
Gene: AGPAT2 HGNC NCBI

Linked Data

gnomAD v4: 9-136673844-G-GGCAGGTGTCCACGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673847_136673860dup , CM000671.2:g.136673847_136673860dup GRCh38
NC_000009.11:g.139568299_139568312dup , CM000671.1:g.139568299_139568312dup GRCh37
NC_000009.10:g.138688120_138688133dup NCBI36
NG_008090.1:g.18602_18615dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.731_744dup MANE Select ENSP00000360761.2:p.His249SerfsTer9
ENST00000371694.7:c.635_648dup ENSP00000360759.3:p.His217SerfsTer9
ENST00000371696.6:c.731_744dup ENSP00000360761.2:p.His249SerfsTer9
ENST00000472820.1:n.659_672dup
ENST00000538402.1:c.731_744dup ENSP00000438919.1:p.His249SerfsTer9
NM_001012727.1:c.635_648dup NP_001012745.1:p.His217SerfsTer9
NM_006412.3:c.731_744dup NP_006403.2:p.His249SerfsTer9
NM_006412.4:c.731_744dup MANE Select NP_006403.2:p.His249SerfsTer9
NM_001012727.2:c.635_648dup NP_001012745.1:p.His217SerfsTer9
Search 100 bp 5'
Search 100 bp 3'