Canonical Allele Identifier: CA5589335
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2051085
ClinVar RCV Id: RCV002922270
dbSNP Id: rs370332296
ExAC: 10:89468974 A / G
gnomAD v2: 10-89468974-A-G
gnomAD v3: 10-87709217-A-G
gnomAD v4: 10-87709217-A-G
MyVariant Identifiers: chr10:g.89468974A>G (hg19) chr10:g.87709217A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709217A>G , CM000672.2:g.87709217A>G GRCh38
NC_000010.10:g.89468974A>G , CM000672.1:g.89468974A>G GRCh37
NC_000010.9:g.89458954A>G NCBI36
NG_012150.1:g.54499A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000456849.2:c.49A>G MANE Select ENSP00000406157.1:p.Asn17Asp
ENST00000361175.8:c.49A>G ENSP00000354436.4:p.Asn17Asp
ENST00000456849.1:c.49A>G ENSP00000406157.1:p.Asn17Asp
ENST00000465996.5:n.71A>G
ENST00000482258.1:n.92A>G
NM_001015880.1:c.49A>G NP_001015880.1:p.Asn17Asp
NM_004670.3:c.49A>G NP_004661.2:p.Asn17Asp
NM_001015880.2:c.49A>G MANE Select NP_001015880.1:p.Asn17Asp
NM_004670.4:c.49A>G NP_004661.2:p.Asn17Asp
Search 100 bp 5'
Search 100 bp 3'