Canonical Allele Identifier: CA375577730

Gene: AGPAT2

Linked Data

• dbSNP Id: rs1846049522
• gnomAD v4: 9-136673912-T-C
• MyVariant Identifiers: chr9:g.139568364T>C (hg19) ; chr9:g.136673912T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673912T>C , CM000671.2:g.136673912T>C	GRCh38
NC_000009.11:g.139568364T>C , CM000671.1:g.139568364T>C	GRCh37
NC_000009.10:g.138688185T>C	NCBI36
NG_008090.1:g.18548A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.677A>G MANE Select	ENSP00000360761.2:p.Gln226Arg
ENST00000371694.7:c.581A>G	ENSP00000360759.3:p.Gln194Arg
ENST00000371696.6:c.677A>G	ENSP00000360761.2:p.Gln226Arg
ENST00000472820.1:n.605A>G
ENST00000538402.1:c.677A>G	ENSP00000438919.1:p.Gln226Arg
NM_001012727.1:c.581A>G	NP_001012745.1:p.Gln194Arg
NM_006412.3:c.677A>G	NP_006403.2:p.Gln226Arg
NM_006412.4:c.677A>G MANE Select	NP_006403.2:p.Gln226Arg
NM_001012727.2:c.581A>G	NP_001012745.1:p.Gln194Arg