Canonical Allele Identifier: CA516701415
Gene: UBQLN2 HGNC NCBI

Linked Data

gnomAD v4: X-56565274-T-C
MyVariant Identifiers: chrX:g.56591707T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565274T>C , CM000685.2:g.56565274T>C GRCh38
NC_000023.10:g.56591707T>C , CM000685.1:g.56591707T>C GRCh37
NC_000023.9:g.56608432T>C NCBI36
NG_016249.1:g.6682T>C , LRG_665:g.6682T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338222.7:c.1401T>C MANE Select ENSP00000345195.5:p.Thr467=
ENST00000338222.6:c.1401T>C ENSP00000345195.5:p.Thr467=
NM_013444.3:c.1401T>C , LRG_665t1:c.1401T>C NP_038472.2:p.Thr467=
XM_011530837.1:c.273+1534T>C XP_011529139.1:n.273+1534T>C
NM_013444.4:c.1401T>C MANE Select NP_038472.2:p.Thr467=
Search 100 bp 5'
Search 100 bp 3'