Canonical Allele Identifier: CA467737119

Gene: AGPAT2

Linked Data

• dbSNP Id: rs370950858
• gnomAD v4: 9-136673875-C-G
• MyVariant Identifiers: chr9:g.139568327C>G (hg19) ; chr9:g.136673875C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673875C>G , CM000671.2:g.136673875C>G	GRCh38
NC_000009.11:g.139568327C>G , CM000671.1:g.139568327C>G	GRCh37
NC_000009.10:g.138688148C>G	NCBI36
NG_008090.1:g.18585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.714G>C MANE Select	ENSP00000360761.2:p.Ala238=
ENST00000371694.7:c.618G>C	ENSP00000360759.3:p.Ala206=
ENST00000371696.6:c.714G>C	ENSP00000360761.2:p.Ala238=
ENST00000472820.1:n.642G>C
ENST00000538402.1:c.714G>C	ENSP00000438919.1:p.Ala238=
NM_001012727.1:c.618G>C	NP_001012745.1:p.Ala206=
NM_006412.3:c.714G>C	NP_006403.2:p.Ala238=
NM_006412.4:c.714G>C MANE Select	NP_006403.2:p.Ala238=
NM_001012727.2:c.618G>C	NP_001012745.1:p.Ala206=