Canonical Allele Identifier: CA591184521
Gene: AGPAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1175976652
gnomAD v2: 9-139571229-GCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGT-G
gnomAD v3: 9-136676777-GCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGT-G
gnomAD v4: 9-136676777-GCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGT-G
MyVariant Identifiers: chr9:g.139571230_139571272del (hg19) chr9:g.136676778_136676820del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136676783_136676825del , CM000671.2:g.136676783_136676825del GRCh38
NC_000009.11:g.139571235_139571277del , CM000671.1:g.139571235_139571277del GRCh37
NC_000009.10:g.138691056_138691098del NCBI36
NG_008090.1:g.15640_15682del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.493-140_493-98del MANE Select ENSP00000360761.2:n.493-140_493-98del
ENST00000371694.7:c.492+141_492+183del ENSP00000360759.3:n.492+141_492+183del
ENST00000371696.6:c.493-140_493-98del ENSP00000360761.2:n.493-140_493-98del
ENST00000472820.1:n.421-140_421-98del
ENST00000538402.1:c.493-140_493-98del ENSP00000438919.1:n.493-140_493-98del
NM_001012727.1:c.492+141_492+183del NP_001012745.1:n.492+141_492+183del
NM_006412.3:c.493-140_493-98del NP_006403.2:n.493-140_493-98del
NM_006412.4:c.493-140_493-98del MANE Select NP_006403.2:n.493-140_493-98del
NM_001012727.2:c.492+141_492+183del NP_001012745.1:n.492+141_492+183del
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