Canonical Allele Identifier: CA89743645

Gene: P3H2

Linked Data

• dbSNP Id: rs536080733
• gnomAD v2: 3-189713348-T-TG
• gnomAD v3: 3-189995559-T-TG
• gnomAD v4: 3-189995559-T-TG
• MyVariant Identifiers: chr3:g.189713348_189713349insG (hg19) ; chr3:g.189995559_189995560insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995559_189995560insG , CM000665.2:g.189995559_189995560insG	GRCh38
NC_000003.11:g.189713348_189713349insG , CM000665.1:g.189713348_189713349insG	GRCh37
NC_000003.10:g.191196042_191196043insG	NCBI36
NG_031929.1:g.131878_131879insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-118_481-117insC MANE Select	ENSP00000316881.5:n.481-118_481-117insC
ENST00000319332.9:c.481-118_481-117insC	ENSP00000316881.5:n.481-118_481-117insC
ENST00000426003.1:c.-63-118_-63-117insC	ENSP00000394326.1:n.-63-118_-63-117insC
ENST00000427335.6:c.-63-118_-63-117insC	ENSP00000408947.2:n.-63-118_-63-117insC
ENST00000444866.5:c.-63-118_-63-117insC	ENSP00000391374.1:n.-63-118_-63-117insC
NM_001134418.1:c.-63-118_-63-117insC	NP_001127890.1:n.-63-118_-63-117insC
NM_018192.3:c.481-118_481-117insC	NP_060662.2:n.481-118_481-117insC
XM_011512955.1:c.-63-118_-63-117insC	XP_011511257.1:n.-63-118_-63-117insC
NM_018192.4:c.481-118_481-117insC MANE Select	NP_060662.2:n.481-118_481-117insC
NM_001134418.2:c.-63-118_-63-117insC	NP_001127890.1:n.-63-118_-63-117insC