Canonical Allele Identifier: CA377489282
Gene: PAPSS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727289G>T , CM000672.2:g.87727289G>T GRCh38
NC_000010.10:g.89487046G>T , CM000672.1:g.89487046G>T GRCh37
NC_000010.9:g.89477026G>T NCBI36
NG_012150.1:g.72571G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.886G>T MANE Select ENSP00000406157.1:p.Val296Leu
ENST00000361175.8:c.871G>T ENSP00000354436.4:p.Val291Leu
ENST00000456849.1:c.886G>T ENSP00000406157.1:p.Val296Leu
NM_001015880.1:c.886G>T NP_001015880.1:p.Val296Leu
NM_004670.3:c.871G>T NP_004661.2:p.Val291Leu
NM_001015880.2:c.886G>T MANE Select NP_001015880.1:p.Val296Leu
NM_004670.4:c.871G>T NP_004661.2:p.Val291Leu