Canonical Allele Identifier: CA5342989

Gene: AGPAT2

Linked Data

• dbSNP Id: rs768564139
• ExAC: 9:139571417 TC / T
• gnomAD v2: 9-139571417-TC-T
• gnomAD v4: 9-136676965-TC-T
• MyVariant Identifiers: chr9:g.139571418del (hg19) ; chr9:g.136676966del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136676968del , CM000671.2:g.136676968del	GRCh38
NC_000009.11:g.139571420del , CM000671.1:g.139571420del	GRCh37
NC_000009.10:g.138691241del	NCBI36
NG_008090.1:g.15494del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371696.7:c.487del MANE Select	ENSP00000360761.2:p.Glu163ArgfsTer?
ENST00000371694.7:c.487del	ENSP00000360759.3:p.Glu163ArgfsTer?
ENST00000371696.6:c.487del	ENSP00000360761.2:p.Glu163ArgfsTer?
ENST00000472820.1:n.415del
ENST00000538402.1:c.487del	ENSP00000438919.1:p.Glu163ArgfsTer?
NM_001012727.1:c.487del	NP_001012745.1:p.Glu163ArgfsTer?
NM_006412.3:c.487del	NP_006403.2:p.Glu163ArgfsTer?
NM_006412.4:c.487del MANE Select	NP_006403.2:p.Glu163ArgfsTer?
NM_001012727.2:c.487del	NP_001012745.1:p.Glu163ArgfsTer?