Canonical Allele Identifier: CA413380690
Gene: UBQLN2 HGNC NCBI

Linked Data

gnomAD v4: X-56565371-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565371C>T , CM000685.2:g.56565371C>T GRCh38
NC_000023.10:g.56591804C>T , CM000685.1:g.56591804C>T GRCh37
NC_000023.9:g.56608529C>T NCBI36
NG_016249.1:g.6779C>T , LRG_665:g.6779C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338222.7:c.1498C>T MANE Select ENSP00000345195.5:p.Pro500Ser
ENST00000338222.6:c.1498C>T ENSP00000345195.5:p.Pro500Ser
NM_013444.3:c.1498C>T , LRG_665t1:c.1498C>T NP_038472.2:p.Pro500Ser
XM_011530837.1:c.273+1631C>T XP_011529139.1:n.273+1631C>T
NM_013444.4:c.1498C>T MANE Select NP_038472.2:p.Pro500Ser