Canonical Allele Identifier: CA470668615
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2890624
ClinVar RCV Id: RCV003618819
dbSNP Id: rs1589439326
gnomAD v4: 10-87727384-A-G
MyVariant Identifiers: chr10:g.89487141A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727384A>G , CM000672.2:g.87727384A>G GRCh38
NC_000010.10:g.89487141A>G , CM000672.1:g.89487141A>G GRCh37
NC_000010.9:g.89477121A>G NCBI36
NG_012150.1:g.72666A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.981A>G MANE Select ENSP00000406157.1:p.Gly327=
ENST00000361175.8:c.966A>G ENSP00000354436.4:p.Gly322=
ENST00000456849.1:c.981A>G ENSP00000406157.1:p.Gly327=
NM_001015880.1:c.981A>G NP_001015880.1:p.Gly327=
NM_004670.3:c.966A>G NP_004661.2:p.Gly322=
NM_001015880.2:c.981A>G MANE Select NP_001015880.1:p.Gly327=
NM_004670.4:c.966A>G NP_004661.2:p.Gly322=
Search 100 bp 5'
Search 100 bp 3'