Canonical Allele Identifier: CA2610034520

Gene: PAPSS2

Linked Data

• gnomAD v4: 10-87709340-TATATAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87709342_87709347del , CM000672.2:g.87709342_87709347del	GRCh38
NC_000010.10:g.89469099_89469104del , CM000672.1:g.89469099_89469104del	GRCh37
NC_000010.9:g.89459079_89459084del	NCBI36
NG_012150.1:g.54624_54629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.145+29_145+34del MANE Select	ENSP00000406157.1:n.145+29_145+34del
ENST00000361175.8:c.145+29_145+34del	ENSP00000354436.4:n.145+29_145+34del
ENST00000456849.1:c.145+29_145+34del	ENSP00000406157.1:n.145+29_145+34del
ENST00000465996.5:n.167+29_167+34del
ENST00000482258.1:n.188+29_188+34del
NM_001015880.1:c.145+29_145+34del	NP_001015880.1:n.145+29_145+34del
NM_004670.3:c.145+29_145+34del	NP_004661.2:n.145+29_145+34del
NM_001015880.2:c.145+29_145+34del MANE Select	NP_001015880.1:n.145+29_145+34del
NM_004670.4:c.145+29_145+34del	NP_004661.2:n.145+29_145+34del