Canonical Allele Identifier: CA259709
Gene: UBQLN2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.56565398C>T
GRCh37 chrX:g.56591831C>T
Revel Score:
ENST00000338222 (MANE Select) 0.451
gnomAD v2:
X:56591831 C / T
gnomAD v3:
X:56565398 C / T
gnomAD v4:
chrX-56565398-C-T
Joint Max Group AF 0.00003401 (AFR)
Genomes Max Group AF 0.00004419 (AFR)
Exomes Max Group AF 0.0000087 (NFE)
ClinVar RCV:
RCV000022845
ClinVar Variation:
29953
dbSNP:
387906712
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565398C>T , CM000685.2:g.56565398C>T GRCh38
NC_000023.10:g.56591831C>T , CM000685.1:g.56591831C>T GRCh37
NC_000023.9:g.56608556C>T NCBI36
NG_016249.1:g.6806C>T , LRG_665:g.6806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338222.7:c.1525C>T MANE Select ENSP00000345195.5:p.Pro509Ser
ENST00000338222.6:c.1525C>T ENSP00000345195.5:p.Pro509Ser
NM_013444.3:c.1525C>T , LRG_665t1:c.1525C>T NP_038472.2:p.Pro509Ser
XM_011530837.1:c.273+1658C>T XP_011529139.1:n.273+1658C>T
NM_013444.4:c.1525C>T MANE Select NP_038472.2:p.Pro509Ser
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