Canonical Allele Identifier: CA375577152

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 1803905
• ClinVar RCV Id: RCV002468530
• MyVariant Identifiers: chr9:g.139568253G>C (hg19) ; chr9:g.136673801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673801G>C , CM000671.2:g.136673801G>C	GRCh38
NC_000009.11:g.139568253G>C , CM000671.1:g.139568253G>C	GRCh37
NC_000009.10:g.138688074G>C	NCBI36
NG_008090.1:g.18659C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.788C>G MANE Select	ENSP00000360761.2:p.Pro263Arg
ENST00000371694.7:c.692C>G	ENSP00000360759.3:p.Pro231Arg
ENST00000371696.6:c.788C>G	ENSP00000360761.2:p.Pro263Arg
ENST00000472820.1:n.716C>G
ENST00000538402.1:c.788C>G	ENSP00000438919.1:p.Pro263Arg
NM_001012727.1:c.692C>G	NP_001012745.1:p.Pro231Arg
NM_006412.3:c.788C>G	NP_006403.2:p.Pro263Arg
NM_006412.4:c.788C>G MANE Select	NP_006403.2:p.Pro263Arg
NM_001012727.2:c.692C>G	NP_001012745.1:p.Pro231Arg