Canonical Allele Identifier: CA2574602521
Gene: PAPSS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709218del , CM000672.2:g.87709218del GRCh38
NC_000010.10:g.89468975del , CM000672.1:g.89468975del GRCh37
NC_000010.9:g.89458955del NCBI36
NG_012150.1:g.54500del

Transcript Alleles

HGVS Amino-acid change
ENST00000456849.2:c.50del MANE Select ENSP00000406157.1:p.Asn17MetfsTer2
ENST00000361175.8:c.50del ENSP00000354436.4:p.Asn17MetfsTer2
ENST00000456849.1:c.50del ENSP00000406157.1:p.Asn17MetfsTer2
ENST00000465996.5:n.72del
ENST00000482258.1:n.93del
NM_001015880.1:c.50del NP_001015880.1:p.Asn17MetfsTer2
NM_004670.3:c.50del NP_004661.2:p.Asn17MetfsTer2
NM_001015880.2:c.50del MANE Select NP_001015880.1:p.Asn17MetfsTer2
NM_004670.4:c.50del NP_004661.2:p.Asn17MetfsTer2