Canonical Allele Identifier: CA1926063625
Gene: PAPSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1853676347
gnomAD v4: 10-87727590-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727592del , CM000672.2:g.87727592del GRCh38
NC_000010.10:g.89487349del , CM000672.1:g.89487349del GRCh37
NC_000010.9:g.89477329del NCBI36
NG_012150.1:g.72874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.1086+103del MANE Select ENSP00000406157.1:n.1086+103del
ENST00000361175.8:c.1071+103del ENSP00000354436.4:n.1071+103del
ENST00000456849.1:c.1086+103del ENSP00000406157.1:n.1086+103del
NM_001015880.1:c.1086+103del NP_001015880.1:n.1086+103del
NM_004670.3:c.1071+103del NP_004661.2:n.1071+103del
NM_001015880.2:c.1086+103del MANE Select NP_001015880.1:n.1086+103del
NM_004670.4:c.1071+103del NP_004661.2:n.1071+103del
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