Canonical Allele Identifier: CA594916764
Gene: PAPSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1328429572
gnomAD v2: 10-89487275-TC-T
MyVariant Identifiers: chr10:g.89487276del (hg19) chr10:g.87727519del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727519del , CM000672.2:g.87727519del GRCh38
NC_000010.10:g.89487276del , CM000672.1:g.89487276del GRCh37
NC_000010.9:g.89477256del NCBI36
NG_012150.1:g.72801del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.1086+30del MANE Select ENSP00000406157.1:n.1086+30del
ENST00000361175.8:c.1071+30del ENSP00000354436.4:n.1071+30del
ENST00000456849.1:c.1086+30del ENSP00000406157.1:n.1086+30del
NM_001015880.1:c.1086+30del NP_001015880.1:n.1086+30del
NM_004670.3:c.1071+30del NP_004661.2:n.1071+30del
NM_001015880.2:c.1086+30del MANE Select NP_001015880.1:n.1086+30del
NM_004670.4:c.1071+30del NP_004661.2:n.1071+30del
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