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: CA369405230
Gene: UBN2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139258501T>C , CM000669.2:g.139258501T>C GRCh38
NC_000007.13:g.138943247T>C , CM000669.1:g.138943247T>C GRCh37
NC_000007.12:g.138593787T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000473989.8:c.677T>C MANE Select ENSP00000418648.2:p.Val226Ala
ENST00000473989.7:c.677T>C ENSP00000418648.2:p.Val226Ala
ENST00000486663.5:c.146T>C ENSP00000417849.1:p.Val49Ala
NM_173569.3:c.677T>C NP_775840.3:p.Val226Ala
XM_005250249.2:c.674T>C XP_005250306.2:p.Val225Ala
XM_006715916.2:c.575T>C XP_006715979.2:p.Val192Ala
XM_011516002.1:c.677T>C XP_011514304.1:p.Val226Ala
XM_011516003.1:c.677T>C XP_011514305.1:p.Val226Ala
NM_173569.4:c.677T>C MANE Select NP_775840.3:p.Val226Ala
XM_005250249.4:c.674T>C XP_005250306.2:p.Val225Ala
XM_006715916.4:c.575T>C XP_006715979.2:p.Val192Ala
XM_011516002.3:c.677T>C XP_011514304.1:p.Val226Ala
XM_011516003.2:c.677T>C XP_011514305.1:p.Val226Ala
XM_024446704.1:c.146T>C XP_024302472.1:p.Val49Ala