Canonical Allele Identifier: CA2573136836

Gene: P3H2

Linked Data

• ClinVar Variation Id: 1653944
• ClinVar RCV Id: RCV002166254
• dbSNP Id: rs2108924675
• gnomAD v4: 3-189995275-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995275G>T , CM000665.2:g.189995275G>T	GRCh38
NC_000003.11:g.189713064G>T , CM000665.1:g.189713064G>T	GRCh37
NC_000003.10:g.191195758G>T	NCBI36
NG_031929.1:g.132163C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000319332.10:c.633+15C>A MANE Select	ENSP00000316881.5:n.633+15C>A
ENST00000319332.9:c.633+15C>A	ENSP00000316881.5:n.633+15C>A
ENST00000426003.1:c.90+15C>A	ENSP00000394326.1:n.90+15C>A
ENST00000427335.6:c.90+15C>A	ENSP00000408947.2:n.90+15C>A
ENST00000444866.5:c.90+15C>A	ENSP00000391374.1:n.90+15C>A
NM_001134418.1:c.90+15C>A	NP_001127890.1:n.90+15C>A
NM_018192.3:c.633+15C>A	NP_060662.2:n.633+15C>A
XM_011512955.1:c.90+15C>A	XP_011511257.1:n.90+15C>A
NM_018192.4:c.633+15C>A MANE Select	NP_060662.2:n.633+15C>A
NM_001134418.2:c.90+15C>A	NP_001127890.1:n.90+15C>A