Canonical Allele Identifier: CA5342940

Gene: AGPAT2

Linked Data

• dbSNP Id: rs751036761
• ExAC: 9:139571063 C / T
• gnomAD v2: 9-139571063-C-T
• gnomAD v4: 9-136676611-C-T
• MyVariant Identifiers: chr9:g.139571063C>T (hg19) ; chr9:g.136676611C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136676611C>T , CM000671.2:g.136676611C>T	GRCh38
NC_000009.11:g.139571063C>T , CM000671.1:g.139571063C>T	GRCh37
NC_000009.10:g.138690884C>T	NCBI36
NG_008090.1:g.15849G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371696.7:c.562G>A MANE Select	ENSP00000360761.2:p.Ala188Thr
ENST00000371694.7:c.492+350G>A	ENSP00000360759.3:n.492+350G>A
ENST00000371696.6:c.562G>A	ENSP00000360761.2:p.Ala188Thr
ENST00000472820.1:n.490G>A
ENST00000538402.1:c.562G>A	ENSP00000438919.1:p.Ala188Thr
NM_001012727.1:c.492+350G>A	NP_001012745.1:n.492+350G>A
NM_006412.3:c.562G>A	NP_006403.2:p.Ala188Thr
NM_006412.4:c.562G>A MANE Select	NP_006403.2:p.Ala188Thr
NM_001012727.2:c.492+350G>A	NP_001012745.1:n.492+350G>A