Canonical Allele Identifier: CA2753304
Gene: P3H2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016653
ClinVar RCV Id: RCV001315688
dbSNP Id: rs780816013
ExAC: 3:189713134 G / A
gnomAD v2: 3-189713134-G-A
gnomAD v3: 3-189995345-G-A
gnomAD v4: 3-189995345-G-A
COSMIC: COSM3427445
MyVariant Identifiers: chr3:g.189713134G>A (hg19) chr3:g.189995345G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995345G>A , CM000665.2:g.189995345G>A GRCh38
NC_000003.11:g.189713134G>A , CM000665.1:g.189713134G>A GRCh37
NC_000003.10:g.191195828G>A NCBI36
NG_031929.1:g.132093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.578C>T MANE Select ENSP00000316881.5:p.Ala193Val
ENST00000319332.9:c.578C>T ENSP00000316881.5:p.Ala193Val
ENST00000426003.1:c.35C>T ENSP00000394326.1:p.Ala12Val
ENST00000427335.6:c.35C>T ENSP00000408947.2:p.Ala12Val
ENST00000444866.5:c.35C>T ENSP00000391374.1:p.Ala12Val
NM_001134418.1:c.35C>T NP_001127890.1:p.Ala12Val
NM_018192.3:c.578C>T NP_060662.2:p.Ala193Val
XM_011512955.1:c.35C>T XP_011511257.1:p.Ala12Val
NM_018192.4:c.578C>T MANE Select NP_060662.2:p.Ala193Val
NM_001134418.2:c.35C>T NP_001127890.1:p.Ala12Val
Search 100 bp 5'
Search 100 bp 3'