Canonical Allele Identifier: CA377489343
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1464080
ClinVar RCV Id: RCV001961270
dbSNP Id: rs2131720625
MyVariant Identifiers: chr10:g.89487074T>G (hg19) chr10:g.87727317T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727317T>G , CM000672.2:g.87727317T>G GRCh38
NC_000010.10:g.89487074T>G , CM000672.1:g.89487074T>G GRCh37
NC_000010.9:g.89477054T>G NCBI36
NG_012150.1:g.72599T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.914T>G MANE Select ENSP00000406157.1:p.Leu305Arg
ENST00000361175.8:c.899T>G ENSP00000354436.4:p.Leu300Arg
ENST00000456849.1:c.914T>G ENSP00000406157.1:p.Leu305Arg
NM_001015880.1:c.914T>G NP_001015880.1:p.Leu305Arg
NM_004670.3:c.899T>G NP_004661.2:p.Leu300Arg
NM_001015880.2:c.914T>G MANE Select NP_001015880.1:p.Leu305Arg
NM_004670.4:c.899T>G NP_004661.2:p.Leu300Arg
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