Canonical Allele Identifier: CA5589337

Gene: PAPSS2

Linked Data

• dbSNP Id: rs139190720
• ExAC: 10:89468975 A / G
• gnomAD v2: 10-89468975-A-G
• gnomAD v3: 10-87709218-A-G
• gnomAD v4: 10-87709218-A-G
• MyVariant Identifiers: chr10:g.89468975A>G (hg19) ; chr10:g.87709218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87709218A>G , CM000672.2:g.87709218A>G	GRCh38
NC_000010.10:g.89468975A>G , CM000672.1:g.89468975A>G	GRCh37
NC_000010.9:g.89458955A>G	NCBI36
NG_012150.1:g.54500A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456849.2:c.50A>G MANE Select	ENSP00000406157.1:p.Asn17Ser
ENST00000361175.8:c.50A>G	ENSP00000354436.4:p.Asn17Ser
ENST00000456849.1:c.50A>G	ENSP00000406157.1:p.Asn17Ser
ENST00000465996.5:n.72A>G
ENST00000482258.1:n.93A>G
NM_001015880.1:c.50A>G	NP_001015880.1:p.Asn17Ser
NM_004670.3:c.50A>G	NP_004661.2:p.Asn17Ser
NM_001015880.2:c.50A>G MANE Select	NP_001015880.1:p.Asn17Ser
NM_004670.4:c.50A>G	NP_004661.2:p.Asn17Ser