Canonical Allele Identifier: CA5342896

Gene: AGPAT2

Linked Data

• dbSNP Id: rs767537103
• ExAC: 9:139569203 C / T
• gnomAD v2: 9-139569203-C-T
• gnomAD v4: 9-136674751-C-T
• MyVariant Identifiers: chr9:g.139569203C>T (hg19) ; chr9:g.136674751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136674751C>T , CM000671.2:g.136674751C>T	GRCh38
NC_000009.11:g.139569203C>T , CM000671.1:g.139569203C>T	GRCh37
NC_000009.10:g.138689024C>T	NCBI36
NG_008090.1:g.17709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.645G>A MANE Select	ENSP00000360761.2:p.Lys215=
ENST00000371694.7:c.549G>A	ENSP00000360759.3:p.Lys183=
ENST00000371696.6:c.645G>A	ENSP00000360761.2:p.Lys215=
ENST00000472820.1:n.573G>A
ENST00000538402.1:c.645G>A	ENSP00000438919.1:p.Lys215=
NM_001012727.1:c.549G>A	NP_001012745.1:p.Lys183=
NM_006412.3:c.645G>A	NP_006403.2:p.Lys215=
NM_006412.4:c.645G>A MANE Select	NP_006403.2:p.Lys215=
NM_001012727.2:c.549G>A	NP_001012745.1:p.Lys183=