Canonical Allele Identifier: CA2610034509
Gene: PAPSS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709328_87709330del , CM000672.2:g.87709328_87709330del GRCh38
NC_000010.10:g.89469085_89469087del , CM000672.1:g.89469085_89469087del GRCh37
NC_000010.9:g.89459065_89459067del NCBI36
NG_012150.1:g.54610_54612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.145+15_145+17del MANE Select ENSP00000406157.1:n.145+15_145+17del
ENST00000361175.8:c.145+15_145+17del ENSP00000354436.4:n.145+15_145+17del
ENST00000456849.1:c.145+15_145+17del ENSP00000406157.1:n.145+15_145+17del
ENST00000465996.5:n.167+15_167+17del
ENST00000482258.1:n.188+15_188+17del
NM_001015880.1:c.145+15_145+17del NP_001015880.1:n.145+15_145+17del
NM_004670.3:c.145+15_145+17del NP_004661.2:n.145+15_145+17del
NM_001015880.2:c.145+15_145+17del MANE Select NP_001015880.1:n.145+15_145+17del
NM_004670.4:c.145+15_145+17del NP_004661.2:n.145+15_145+17del