Canonical Allele Identifier: CA594914383
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2048138
ClinVar RCV Id: RCV002918572
dbSNP Id: rs72025574
gnomAD v2: 10-89469083-C-CATAT
gnomAD v3: 10-87709326-C-CATAT
gnomAD v4: 10-87709326-C-CATAT
MyVariant Identifiers: chr10:g.89469089_89469090insATAT (hg19) chr10:g.89469083_89469084insATAT (hg19) chr10:g.87709332_87709333insATAT (hg38) chr10:g.87709326_87709327insATAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709342_87709345dup , CM000672.2:g.87709342_87709345dup GRCh38
NC_000010.10:g.89469099_89469102dup , CM000672.1:g.89469099_89469102dup GRCh37
NC_000010.9:g.89459079_89459082dup NCBI36
NG_012150.1:g.54624_54627dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.145+29_145+32dup MANE Select ENSP00000406157.1:n.145+29_145+32dup
ENST00000361175.8:c.145+29_145+32dup ENSP00000354436.4:n.145+29_145+32dup
ENST00000456849.1:c.145+29_145+32dup ENSP00000406157.1:n.145+29_145+32dup
ENST00000465996.5:n.167+29_167+32dup
ENST00000482258.1:n.188+29_188+32dup
NM_001015880.1:c.145+29_145+32dup NP_001015880.1:n.145+29_145+32dup
NM_004670.3:c.145+29_145+32dup NP_004661.2:n.145+29_145+32dup
NM_001015880.2:c.145+29_145+32dup MANE Select NP_001015880.1:n.145+29_145+32dup
NM_004670.4:c.145+29_145+32dup NP_004661.2:n.145+29_145+32dup
Search 100 bp 5'
Search 100 bp 3'