Canonical Allele Identifier: CA591183731

Gene: AGPAT2

Linked Data

• gnomAD v2: 9-139569226-AGAAG-A
• gnomAD v4: 9-136674774-AGAAG-A
• MyVariant Identifiers: chr9:g.139569227_139569230del (hg19) ; chr9:g.136674775_136674778del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136674779_136674782del , CM000671.2:g.136674779_136674782del	GRCh38
NC_000009.11:g.139569231_139569234del , CM000671.1:g.139569231_139569234del	GRCh37
NC_000009.10:g.138689052_138689055del	NCBI36
NG_008090.1:g.17682_17685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.618_621del MANE Select	ENSP00000360761.2:p.Phe207ProfsTer?
ENST00000371694.7:c.522_525del	ENSP00000360759.3:p.Phe175ProfsTer?
ENST00000371696.6:c.618_621del	ENSP00000360761.2:p.Phe207ProfsTer?
ENST00000472820.1:n.546_549del
ENST00000538402.1:c.618_621del	ENSP00000438919.1:p.Phe207ProfsTer?
NM_001012727.1:c.522_525del	NP_001012745.1:p.Phe175ProfsTer?
NM_006412.3:c.618_621del	NP_006403.2:p.Phe207ProfsTer?
NM_006412.4:c.618_621del MANE Select	NP_006403.2:p.Phe207ProfsTer?
NM_001012727.2:c.522_525del	NP_001012745.1:p.Phe175ProfsTer?