Canonical Allele Identifier: CA5343159

Gene: AGPAT2

Linked Data

• dbSNP Id: rs748131425
• ExAC: 9:139581654 G / T
• gnomAD v2: 9-139581654-G-T
• gnomAD v4: 9-136687202-G-T
• MyVariant Identifiers: chr9:g.139581654G>T (hg19) ; chr9:g.136687202G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136687202G>T , CM000671.2:g.136687202G>T	GRCh38
NC_000009.11:g.139581654G>T , CM000671.1:g.139581654G>T	GRCh37
NC_000009.10:g.138701475G>T	NCBI36
NG_008090.1:g.5258C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.156C>A MANE Select	ENSP00000360761.2:p.His52Gln
ENST00000371694.7:c.156C>A	ENSP00000360759.3:p.His52Gln
ENST00000371696.6:c.156C>A	ENSP00000360761.2:p.His52Gln
ENST00000470861.1:n.164C>A
ENST00000538402.1:c.156C>A	ENSP00000438919.1:p.His52Gln
NM_001012727.1:c.156C>A	NP_001012745.1:p.His52Gln
NM_006412.3:c.156C>A	NP_006403.2:p.His52Gln
NM_006412.4:c.156C>A MANE Select	NP_006403.2:p.His52Gln
NM_001012727.2:c.156C>A	NP_001012745.1:p.His52Gln