Canonical Allele Identifier: CA2610038251
Gene: PAPSS2 HGNC NCBI

Linked Data

gnomAD v4: 10-87727425-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727426del , CM000672.2:g.87727426del GRCh38
NC_000010.10:g.89487183del , CM000672.1:g.89487183del GRCh37
NC_000010.9:g.89477163del NCBI36
NG_012150.1:g.72708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.1023del MANE Select ENSP00000406157.1:p.His341GlnfsTer24
ENST00000361175.8:c.1008del ENSP00000354436.4:p.His336GlnfsTer24
ENST00000456849.1:c.1023del ENSP00000406157.1:p.His341GlnfsTer24
NM_001015880.1:c.1023del NP_001015880.1:p.His341GlnfsTer24
NM_004670.3:c.1008del NP_004661.2:p.His336GlnfsTer24
NM_001015880.2:c.1023del MANE Select NP_001015880.1:p.His341GlnfsTer24
NM_004670.4:c.1008del NP_004661.2:p.His336GlnfsTer24
Search 100 bp 5'
Search 100 bp 3'