Canonical Allele Identifier: CA377489461
Gene: PAPSS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727374C>T , CM000672.2:g.87727374C>T GRCh38
NC_000010.10:g.89487131C>T , CM000672.1:g.89487131C>T GRCh37
NC_000010.9:g.89477111C>T NCBI36
NG_012150.1:g.72656C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.971C>T MANE Select ENSP00000406157.1:p.Ala324Val
ENST00000361175.8:c.956C>T ENSP00000354436.4:p.Ala319Val
ENST00000456849.1:c.971C>T ENSP00000406157.1:p.Ala324Val
NM_001015880.1:c.971C>T NP_001015880.1:p.Ala324Val
NM_004670.3:c.956C>T NP_004661.2:p.Ala319Val
NM_001015880.2:c.971C>T MANE Select NP_001015880.1:p.Ala324Val
NM_004670.4:c.956C>T NP_004661.2:p.Ala319Val