Canonical Allele Identifier: CA2753323
Gene: P3H2 HGNC NCBI

Linked Data

ClinVar Variation Id: 677171
ClinVar RCV Id: RCV000836679 RCV001730722
dbSNP Id: rs9821880
ExAC: 3:189713205 T / C
gnomAD v2: 3-189713205-T-C
gnomAD v3: 3-189995416-T-C
gnomAD v4: 3-189995416-T-C
MyVariant Identifiers: chr3:g.189713205T>C (hg19) chr3:g.189995416T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995416T>C , CM000665.2:g.189995416T>C GRCh38
NC_000003.11:g.189713205T>C , CM000665.1:g.189713205T>C GRCh37
NC_000003.10:g.191195899T>C NCBI36
NG_031929.1:g.132022A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.507A>G MANE Select ENSP00000316881.5:p.Glu169=
ENST00000319332.9:c.507A>G ENSP00000316881.5:p.Glu169=
ENST00000426003.1:c.-37A>G ENSP00000394326.1:n.-37A>G
ENST00000427335.6:c.-37A>G ENSP00000408947.2:n.-37A>G
ENST00000444866.5:c.-37A>G ENSP00000391374.1:n.-37A>G
NM_001134418.1:c.-37A>G NP_001127890.1:n.-37A>G
NM_018192.3:c.507A>G NP_060662.2:p.Glu169=
XM_011512955.1:c.-37A>G XP_011511257.1:n.-37A>G
NM_018192.4:c.507A>G MANE Select NP_060662.2:p.Glu169=
NM_001134418.2:c.-37A>G NP_001127890.1:n.-37A>G
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