Canonical Allele Identifier: CA413380494
Gene: UBQLN2 HGNC NCBI

Linked Data

gnomAD v4: X-56565269-G-A
MyVariant Identifiers: chrX:g.56591702G>A (hg19) chrX:g.56565269G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565269G>A , CM000685.2:g.56565269G>A GRCh38
NC_000023.10:g.56591702G>A , CM000685.1:g.56591702G>A GRCh37
NC_000023.9:g.56608427G>A NCBI36
NG_016249.1:g.6677G>A , LRG_665:g.6677G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338222.7:c.1396G>A MANE Select ENSP00000345195.5:p.Ala466Thr
ENST00000338222.6:c.1396G>A ENSP00000345195.5:p.Ala466Thr
NM_013444.3:c.1396G>A , LRG_665t1:c.1396G>A NP_038472.2:p.Ala466Thr
XM_011530837.1:c.273+1529G>A XP_011529139.1:n.273+1529G>A
NM_013444.4:c.1396G>A MANE Select NP_038472.2:p.Ala466Thr
Search 100 bp 5'
Search 100 bp 3'