Canonical Allele Identifier: CA10430159
Gene: UBQLN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2419797
ClinVar RCV Id: RCV003115682
dbSNP Id: rs757944910
ExAC: X:56591697 C / T
gnomAD v2: X-56591697-C-T
gnomAD v4: X-56565264-C-T
MyVariant Identifiers: chrX:g.56591697C>T (hg19) chrX:g.56565264C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565264C>T , CM000685.2:g.56565264C>T GRCh38
NC_000023.10:g.56591697C>T , CM000685.1:g.56591697C>T GRCh37
NC_000023.9:g.56608422C>T NCBI36
NG_016249.1:g.6672C>T , LRG_665:g.6672C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338222.7:c.1391C>T MANE Select ENSP00000345195.5:p.Thr464Ile
ENST00000338222.6:c.1391C>T ENSP00000345195.5:p.Thr464Ile
NM_013444.3:c.1391C>T , LRG_665t1:c.1391C>T NP_038472.2:p.Thr464Ile
XM_011530837.1:c.273+1524C>T XP_011529139.1:n.273+1524C>T
NM_013444.4:c.1391C>T MANE Select NP_038472.2:p.Thr464Ile
Search 100 bp 5'
Search 100 bp 3'