Canonical Allele Identifier: CA5589624
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2907725
ClinVar RCV Id: RCV003618983
dbSNP Id: rs183111777
ExAC: 10:89487165 C / T
gnomAD v2: 10-89487165-C-T
gnomAD v3: 10-87727408-C-T
gnomAD v4: 10-87727408-C-T
MyVariant Identifiers: chr10:g.89487165C>T (hg19) chr10:g.87727408C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727408C>T , CM000672.2:g.87727408C>T GRCh38
NC_000010.10:g.89487165C>T , CM000672.1:g.89487165C>T GRCh37
NC_000010.9:g.89477145C>T NCBI36
NG_012150.1:g.72690C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.1005C>T MANE Select ENSP00000406157.1:p.Asp335=
ENST00000361175.8:c.990C>T ENSP00000354436.4:p.Asp330=
ENST00000456849.1:c.1005C>T ENSP00000406157.1:p.Asp335=
NM_001015880.1:c.1005C>T NP_001015880.1:p.Asp335=
NM_004670.3:c.990C>T NP_004661.2:p.Asp330=
NM_001015880.2:c.1005C>T MANE Select NP_001015880.1:p.Asp335=
NM_004670.4:c.990C>T NP_004661.2:p.Asp330=
Search 100 bp 5'
Search 100 bp 3'