Canonical Allele Identifier: CA5589356
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1590770
ClinVar RCV Id: RCV002107487
dbSNP Id: rs72025574
ExAC: 10:89469083 C / CAT
gnomAD v2: 10-89469083-C-CAT
gnomAD v3: 10-87709326-C-CAT
gnomAD v4: 10-87709326-C-CAT
MyVariant Identifiers: chr10:g.89469089_89469090insAT (hg19) chr10:g.89469083_89469084insAT (hg19) chr10:g.87709332_87709333insAT (hg38) chr10:g.87709326_87709327insAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709344_87709345dup , CM000672.2:g.87709344_87709345dup GRCh38
NC_000010.10:g.89469101_89469102dup , CM000672.1:g.89469101_89469102dup GRCh37
NC_000010.9:g.89459081_89459082dup NCBI36
NG_012150.1:g.54626_54627dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.145+31_145+32dup MANE Select ENSP00000406157.1:n.145+31_145+32dup
ENST00000361175.8:c.145+31_145+32dup ENSP00000354436.4:n.145+31_145+32dup
ENST00000456849.1:c.145+31_145+32dup ENSP00000406157.1:n.145+31_145+32dup
ENST00000465996.5:n.167+31_167+32dup
ENST00000482258.1:n.188+31_188+32dup
NM_001015880.1:c.145+31_145+32dup NP_001015880.1:n.145+31_145+32dup
NM_004670.3:c.145+31_145+32dup NP_004661.2:n.145+31_145+32dup
NM_001015880.2:c.145+31_145+32dup MANE Select NP_001015880.1:n.145+31_145+32dup
NM_004670.4:c.145+31_145+32dup NP_004661.2:n.145+31_145+32dup
Search 100 bp 5'
Search 100 bp 3'