Canonical Allele Identifier: CA188597388
Gene: UHRF2 HGNC NCBI

Linked Data

dbSNP Id: rs140835054
gnomAD v3: 9-6428444-C-T
gnomAD v4: 9-6428444-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6428444C>T , CM000671.2:g.6428444C>T GRCh38
NC_000009.11:g.6428444C>T , CM000671.1:g.6428444C>T GRCh37
NC_000009.10:g.6418444C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000276893.10:c.385-5470C>T MANE Select ENSP00000276893.5:n.385-5470C>T
ENST00000276893.9:c.385-5470C>T ENSP00000276893.5:n.385-5470C>T
ENST00000450508.1:c.-26+7302C>T ENSP00000399217.1:n.-26+7302C>T
ENST00000461236.1:n.343-5470C>T
ENST00000468435.6:c.385-5470C>T ENSP00000434182.1:n.385-5470C>T
ENST00000469298.5:n.556-5470C>T
ENST00000481049.5:n.367-5470C>T
NM_152896.2:c.385-5470C>T NP_690856.1:n.385-5470C>T
NR_046386.1:n.725-5470C>T
XM_011517703.1:c.385-5470C>T XP_011516005.1:n.385-5470C>T
XM_011517704.1:c.-285-5470C>T XP_011516006.1:n.-285-5470C>T
XM_011517705.1:c.-26+7302C>T XP_011516007.1:n.-26+7302C>T
XR_428418.2:n.728-5470C>T
XR_428419.2:n.728-5470C>T
XR_428420.2:n.728-5470C>T
XR_428421.2:n.728-5470C>T
XR_929173.1:n.728-5470C>T
XM_011517704.2:c.-285-5470C>T XP_011516006.1:n.-285-5470C>T
XM_011517705.2:c.-26+7302C>T XP_011516007.1:n.-26+7302C>T
XM_017014253.1:c.385-5470C>T XP_016869742.1:n.385-5470C>T
XM_017014254.1:c.-559-5470C>T XP_016869743.1:n.-559-5470C>T
XR_001746178.2:n.728-5470C>T
XR_001746179.1:n.728-5470C>T
XR_001746180.2:n.728-5470C>T
XR_001746181.1:n.728-5470C>T
XR_001746182.1:n.728-5470C>T
XR_428418.4:n.728-5470C>T
NM_152896.3:c.385-5470C>T MANE Select NP_690856.1:n.385-5470C>T
NR_046386.2:n.677-5470C>T