Canonical Allele Identifier: CA377489281
Gene: PAPSS2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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