Canonical Allele Identifier: CA5589331
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288334
ClinVar RCV Id: RCV000357471 RCV001570769 RCV001513799
dbSNP Id: rs17173698
ExAC: 10:89468953 G / A
gnomAD v2: 10-89468953-G-A
gnomAD v3: 10-87709196-G-A
gnomAD v4: 10-87709196-G-A
MyVariant Identifiers: chr10:g.89468953G>A (hg19) chr10:g.87709196G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709196G>A , CM000672.2:g.87709196G>A GRCh38
NC_000010.10:g.89468953G>A , CM000672.1:g.89468953G>A GRCh37
NC_000010.9:g.89458933G>A NCBI36
NG_012150.1:g.54478G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.28G>A MANE Select ENSP00000406157.1:p.Glu10Lys
ENST00000361175.8:c.28G>A ENSP00000354436.4:p.Glu10Lys
ENST00000456849.1:c.28G>A ENSP00000406157.1:p.Glu10Lys
ENST00000465996.5:n.50G>A
ENST00000482258.1:n.71G>A
NM_001015880.1:c.28G>A NP_001015880.1:p.Glu10Lys
NM_004670.3:c.28G>A NP_004661.2:p.Glu10Lys
NM_001015880.2:c.28G>A MANE Select NP_001015880.1:p.Glu10Lys
NM_004670.4:c.28G>A NP_004661.2:p.Glu10Lys
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