This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA369406904
Gene: UBN2 HGNC NCBI
ClinVar RCV:
RCV004301777
ClinVar Variation:
2531428
gnomAD v4:
chr7-139261494-T-C
MyVariant.info:
GRCh38 chr7:g.139261494T>C
GRCh37 chr7:g.138946240T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139261494T>C , CM000669.2:g.139261494T>C GRCh38
NC_000007.13:g.138946240T>C , CM000669.1:g.138946240T>C GRCh37
NC_000007.12:g.138596780T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000473989.8:c.1148T>C MANE Select ENSP00000418648.2:p.Ile383Thr
ENST00000473989.7:c.1148T>C ENSP00000418648.2:p.Ile383Thr
ENST00000483726.1:c.454T>C
NM_173569.3:c.1148T>C NP_775840.3:p.Ile383Thr
XM_005250249.2:c.1145T>C XP_005250306.2:p.Ile382Thr
XM_006715916.2:c.1046T>C XP_006715979.2:p.Ile349Thr
XM_011516002.1:c.1148T>C XP_011514304.1:p.Ile383Thr
XM_011516003.1:c.1148T>C XP_011514305.1:p.Ile383Thr
NM_173569.4:c.1148T>C MANE Select NP_775840.3:p.Ile383Thr
XM_005250249.4:c.1145T>C XP_005250306.2:p.Ile382Thr
XM_006715916.4:c.1046T>C XP_006715979.2:p.Ile349Thr
XM_011516002.3:c.1148T>C XP_011514304.1:p.Ile383Thr
XM_011516003.2:c.1148T>C XP_011514305.1:p.Ile383Thr
XM_024446704.1:c.617T>C XP_024302472.1:p.Ile206Thr
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