Canonical Allele Identifier: CA377489337
Gene: PAPSS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727313G>T , CM000672.2:g.87727313G>T GRCh38
NC_000010.10:g.89487070G>T , CM000672.1:g.89487070G>T GRCh37
NC_000010.9:g.89477050G>T NCBI36
NG_012150.1:g.72595G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.910G>T MANE Select ENSP00000406157.1:p.Val304Leu
ENST00000361175.8:c.895G>T ENSP00000354436.4:p.Val299Leu
ENST00000456849.1:c.910G>T ENSP00000406157.1:p.Val304Leu
NM_001015880.1:c.910G>T NP_001015880.1:p.Val304Leu
NM_004670.3:c.895G>T NP_004661.2:p.Val299Leu
NM_001015880.2:c.910G>T MANE Select NP_001015880.1:p.Val304Leu
NM_004670.4:c.895G>T NP_004661.2:p.Val299Leu