Canonical Allele Identifier: CA5589621
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2994671
ClinVar RCV Id: RCV003858294
dbSNP Id: rs775344235
ExAC: 10:89487147 G / A
gnomAD v2: 10-89487147-G-A
gnomAD v3: 10-87727390-G-A
gnomAD v4: 10-87727390-G-A
MyVariant Identifiers: chr10:g.89487147G>A (hg19) chr10:g.87727390G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727390G>A , CM000672.2:g.87727390G>A GRCh38
NC_000010.10:g.89487147G>A , CM000672.1:g.89487147G>A GRCh37
NC_000010.9:g.89477127G>A NCBI36
NG_012150.1:g.72672G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.987G>A MANE Select ENSP00000406157.1:p.Arg329=
ENST00000361175.8:c.972G>A ENSP00000354436.4:p.Arg324=
ENST00000456849.1:c.987G>A ENSP00000406157.1:p.Arg329=
NM_001015880.1:c.987G>A NP_001015880.1:p.Arg329=
NM_004670.3:c.972G>A NP_004661.2:p.Arg324=
NM_001015880.2:c.987G>A MANE Select NP_001015880.1:p.Arg329=
NM_004670.4:c.972G>A NP_004661.2:p.Arg324=
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