Canonical Allele Identifier: CA377485178
Gene: PAPSS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709220G>C , CM000672.2:g.87709220G>C GRCh38
NC_000010.10:g.89468977G>C , CM000672.1:g.89468977G>C GRCh37
NC_000010.9:g.89458957G>C NCBI36
NG_012150.1:g.54502G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000456849.2:c.52G>C MANE Select ENSP00000406157.1:p.Val18Leu
ENST00000361175.8:c.52G>C ENSP00000354436.4:p.Val18Leu
ENST00000456849.1:c.52G>C ENSP00000406157.1:p.Val18Leu
ENST00000465996.5:n.74G>C
ENST00000482258.1:n.95G>C
NM_001015880.1:c.52G>C NP_001015880.1:p.Val18Leu
NM_004670.3:c.52G>C NP_004661.2:p.Val18Leu
NM_001015880.2:c.52G>C MANE Select NP_001015880.1:p.Val18Leu
NM_004670.4:c.52G>C NP_004661.2:p.Val18Leu