Canonical Allele Identifier: CA4508750
Gene: UBN2 HGNC NCBI
ClinVar RCV:
RCV004477029
ClinVar Variation:
3185700
dbSNP:
771475647
gnomAD v2:
7:138944056 A / C
gnomAD v3:
7:139259310 A / C
gnomAD v4:
chr7-139259310-A-C
Joint Max Group AF 0.00007077 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00007048 (NFE)
MyVariant.info:
GRCh38 chr7:g.139259310A>C
GRCh37 chr7:g.138944056A>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139259310A>C , CM000669.2:g.139259310A>C GRCh38
NC_000007.13:g.138944056A>C , CM000669.1:g.138944056A>C GRCh37
NC_000007.12:g.138594596A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000473989.8:c.845A>C MANE Select ENSP00000418648.2:p.Lys282Thr
ENST00000473989.7:c.845A>C ENSP00000418648.2:p.Lys282Thr
ENST00000483726.1:c.151A>C
ENST00000486663.5:c.314A>C ENSP00000417849.1:p.Lys105Thr
NM_173569.3:c.845A>C NP_775840.3:p.Lys282Thr
XM_005250249.2:c.842A>C XP_005250306.2:p.Lys281Thr
XM_006715916.2:c.743A>C XP_006715979.2:p.Lys248Thr
XM_011516002.1:c.845A>C XP_011514304.1:p.Lys282Thr
XM_011516003.1:c.845A>C XP_011514305.1:p.Lys282Thr
NM_173569.4:c.845A>C MANE Select NP_775840.3:p.Lys282Thr
XM_005250249.4:c.842A>C XP_005250306.2:p.Lys281Thr
XM_006715916.4:c.743A>C XP_006715979.2:p.Lys248Thr
XM_011516002.3:c.845A>C XP_011514304.1:p.Lys282Thr
XM_011516003.2:c.845A>C XP_011514305.1:p.Lys282Thr
XM_024446704.1:c.314A>C XP_024302472.1:p.Lys105Thr
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