Canonical Allele Identifier: CA1120855438

Gene: UHRF2

Linked Data

• dbSNP Id: rs1820378240
• gnomAD v3: 9-6428457-TTAAC-T
• gnomAD v4: 9-6428457-TTAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6428459_6428462del , CM000671.2:g.6428459_6428462del	GRCh38
NC_000009.11:g.6428459_6428462del , CM000671.1:g.6428459_6428462del	GRCh37
NC_000009.10:g.6418459_6418462del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000276893.10:c.385-5455_385-5452del MANE Select	ENSP00000276893.5:n.385-5455_385-5452del
ENST00000276893.9:c.385-5455_385-5452del	ENSP00000276893.5:n.385-5455_385-5452del
ENST00000450508.1:c.-26+7317_-26+7320del	ENSP00000399217.1:n.-26+7317_-26+7320del
ENST00000461236.1:n.343-5455_343-5452del
ENST00000468435.6:c.385-5455_385-5452del	ENSP00000434182.1:n.385-5455_385-5452del
ENST00000469298.5:n.556-5455_556-5452del
ENST00000481049.5:n.367-5455_367-5452del
NM_152896.2:c.385-5455_385-5452del	NP_690856.1:n.385-5455_385-5452del
NR_046386.1:n.725-5455_725-5452del
XM_011517703.1:c.385-5455_385-5452del	XP_011516005.1:n.385-5455_385-5452del
XM_011517704.1:c.-285-5455_-285-5452del	XP_011516006.1:n.-285-5455_-285-5452del
XM_011517705.1:c.-26+7317_-26+7320del	XP_011516007.1:n.-26+7317_-26+7320del
XR_428418.2:n.728-5455_728-5452del
XR_428419.2:n.728-5455_728-5452del
XR_428420.2:n.728-5455_728-5452del
XR_428421.2:n.728-5455_728-5452del
XR_929173.1:n.728-5455_728-5452del
XM_011517704.2:c.-285-5455_-285-5452del	XP_011516006.1:n.-285-5455_-285-5452del
XM_011517705.2:c.-26+7317_-26+7320del	XP_011516007.1:n.-26+7317_-26+7320del
XM_017014253.1:c.385-5455_385-5452del	XP_016869742.1:n.385-5455_385-5452del
XM_017014254.1:c.-559-5455_-559-5452del	XP_016869743.1:n.-559-5455_-559-5452del
XR_001746178.2:n.728-5455_728-5452del
XR_001746179.1:n.728-5455_728-5452del
XR_001746180.2:n.728-5455_728-5452del
XR_001746181.1:n.728-5455_728-5452del
XR_001746182.1:n.728-5455_728-5452del
XR_428418.4:n.728-5455_728-5452del
NM_152896.3:c.385-5455_385-5452del MANE Select	NP_690856.1:n.385-5455_385-5452del
NR_046386.2:n.677-5455_677-5452del