Canonical Allele Identifier: CA243204
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 196297
ClinVar RCV Id: RCV000177100 RCV004020104
dbSNP Id: rs139638741
ExAC: 10:89472888 T / C
gnomAD v2: 10-89472888-T-C
gnomAD v3: 10-87713131-T-C
gnomAD v4: 10-87713131-T-C
MyVariant Identifiers: chr10:g.89472888T>C (hg19) chr10:g.87713131T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87713131T>C , CM000672.2:g.87713131T>C GRCh38
NC_000010.10:g.89472888T>C , CM000672.1:g.89472888T>C GRCh37
NC_000010.9:g.89462868T>C NCBI36
NG_012150.1:g.58413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.202T>C MANE Select ENSP00000406157.1:p.Ser68Pro
ENST00000361175.8:c.202T>C ENSP00000354436.4:p.Ser68Pro
ENST00000456849.1:c.202T>C ENSP00000406157.1:p.Ser68Pro
ENST00000465996.5:n.224T>C
ENST00000482258.1:n.245T>C
NM_001015880.1:c.202T>C NP_001015880.1:p.Ser68Pro
NM_004670.3:c.202T>C NP_004661.2:p.Ser68Pro
NM_001015880.2:c.202T>C MANE Select NP_001015880.1:p.Ser68Pro
NM_004670.4:c.202T>C NP_004661.2:p.Ser68Pro
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