Canonical Allele Identifier: CA377489341
Gene: PAPSS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727316C>A , CM000672.2:g.87727316C>A GRCh38
NC_000010.10:g.89487073C>A , CM000672.1:g.89487073C>A GRCh37
NC_000010.9:g.89477053C>A NCBI36
NG_012150.1:g.72598C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.913C>A MANE Select ENSP00000406157.1:p.Leu305Met
ENST00000361175.8:c.898C>A ENSP00000354436.4:p.Leu300Met
ENST00000456849.1:c.913C>A ENSP00000406157.1:p.Leu305Met
NM_001015880.1:c.913C>A NP_001015880.1:p.Leu305Met
NM_004670.3:c.898C>A NP_004661.2:p.Leu300Met
NM_001015880.2:c.913C>A MANE Select NP_001015880.1:p.Leu305Met
NM_004670.4:c.898C>A NP_004661.2:p.Leu300Met