Canonical Allele Identifier: CA548498948

Gene: P3H2

Linked Data

• dbSNP Id: rs1560354235
• gnomAD v2: 3-189713349-T-TTG
• gnomAD v3: 3-189995560-T-TTG
• gnomAD v4: 3-189995560-T-TTG
• MyVariant Identifiers: chr3:g.189713349_189713350insTG (hg19) ; chr3:g.189995560_189995561insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995561_189995562insGT , CM000665.2:g.189995561_189995562insGT	GRCh38
NC_000003.11:g.189713350_189713351insGT , CM000665.1:g.189713350_189713351insGT	GRCh37
NC_000003.10:g.191196044_191196045insGT	NCBI36
NG_031929.1:g.131877_131878insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-119_481-118insCA MANE Select	ENSP00000316881.5:n.481-119_481-118insCA
ENST00000319332.9:c.481-119_481-118insCA	ENSP00000316881.5:n.481-119_481-118insCA
ENST00000426003.1:c.-63-119_-63-118insCA	ENSP00000394326.1:n.-63-119_-63-118insCA
ENST00000427335.6:c.-63-119_-63-118insCA	ENSP00000408947.2:n.-63-119_-63-118insCA
ENST00000444866.5:c.-63-119_-63-118insCA	ENSP00000391374.1:n.-63-119_-63-118insCA
NM_001134418.1:c.-63-119_-63-118insCA	NP_001127890.1:n.-63-119_-63-118insCA
NM_018192.3:c.481-119_481-118insCA	NP_060662.2:n.481-119_481-118insCA
XM_011512955.1:c.-63-119_-63-118insCA	XP_011511257.1:n.-63-119_-63-118insCA
NM_018192.4:c.481-119_481-118insCA MANE Select	NP_060662.2:n.481-119_481-118insCA
NM_001134418.2:c.-63-119_-63-118insCA	NP_001127890.1:n.-63-119_-63-118insCA