Canonical Allele Identifier: CA5589619
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2200342
ClinVar RCV Id: RCV002638168
dbSNP Id: rs560333289
ExAC: 10:89487142 C / T
gnomAD v2: 10-89487142-C-T
gnomAD v3: 10-87727385-C-T
gnomAD v4: 10-87727385-C-T
COSMIC: COSM1187984
MyVariant Identifiers: chr10:g.89487142C>T (hg19) chr10:g.87727385C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727385C>T , CM000672.2:g.87727385C>T GRCh38
NC_000010.10:g.89487142C>T , CM000672.1:g.89487142C>T GRCh37
NC_000010.9:g.89477122C>T NCBI36
NG_012150.1:g.72667C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.982C>T MANE Select ENSP00000406157.1:p.Arg328Trp
ENST00000361175.8:c.967C>T ENSP00000354436.4:p.Arg323Trp
ENST00000456849.1:c.982C>T ENSP00000406157.1:p.Arg328Trp
NM_001015880.1:c.982C>T NP_001015880.1:p.Arg328Trp
NM_004670.3:c.967C>T NP_004661.2:p.Arg323Trp
NM_001015880.2:c.982C>T MANE Select NP_001015880.1:p.Arg328Trp
NM_004670.4:c.967C>T NP_004661.2:p.Arg323Trp
Search 100 bp 5'
Search 100 bp 3'