Canonical Allele Identifier: CA118418
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6687
ClinVar RCV Id: RCV000007075
dbSNP Id: rs121908951

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709311C>G , CM000672.2:g.87709311C>G GRCh38
NC_000010.10:g.89469068C>G , CM000672.1:g.89469068C>G GRCh37
NC_000010.9:g.89459048C>G NCBI36
NG_012150.1:g.54593C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.143C>G MANE Select ENSP00000406157.1:p.Thr48Arg
ENST00000361175.8:c.143C>G ENSP00000354436.4:p.Thr48Arg
ENST00000456849.1:c.143C>G ENSP00000406157.1:p.Thr48Arg
ENST00000465996.5:n.165C>G
ENST00000482258.1:n.186C>G
NM_001015880.1:c.143C>G NP_001015880.1:p.Thr48Arg
NM_004670.3:c.143C>G NP_004661.2:p.Thr48Arg
NM_001015880.2:c.143C>G MANE Select NP_001015880.1:p.Thr48Arg
NM_004670.4:c.143C>G NP_004661.2:p.Thr48Arg