Canonical Allele Identifier: CA2610036380

Gene: PAPSS2

Linked Data

• gnomAD v4: 10-87713270-G-GTAATGCAGACCAGACCAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87713271_87713272insAATGCAGACCAGACCAGCAT , CM000672.2:g.87713271_87713272insAATGCAGACCAGACCAGCAT	GRCh38
NC_000010.10:g.89473028_89473029insAATGCAGACCAGACCAGCAT , CM000672.1:g.89473028_89473029insAATGCAGACCAGACCAGCAT	GRCh37
NC_000010.9:g.89463008_89463009insAATGCAGACCAGACCAGCAT	NCBI36
NG_012150.1:g.58553_58554insAATGCAGACCAGACCAGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.342_343insAATGCAGACCAGACCAGCAT MANE Select	ENSP00000406157.1:p.Leu115AsnfsTer?
ENST00000361175.8:c.342_343insAATGCAGACCAGACCAGCAT	ENSP00000354436.4:p.Leu115AsnfsTer?
ENST00000456849.1:c.342_343insAATGCAGACCAGACCAGCAT	ENSP00000406157.1:p.Leu115AsnfsTer?
ENST00000482258.1:n.385_386insAATGCAGACCAGACCAGCAT
NM_001015880.1:c.342_343insAATGCAGACCAGACCAGCAT	NP_001015880.1:p.Leu115AsnfsTer?
NM_004670.3:c.342_343insAATGCAGACCAGACCAGCAT	NP_004661.2:p.Leu115AsnfsTer?
NM_001015880.2:c.342_343insAATGCAGACCAGACCAGCAT MANE Select	NP_001015880.1:p.Leu115AsnfsTer?
NM_004670.4:c.342_343insAATGCAGACCAGACCAGCAT	NP_004661.2:p.Leu115AsnfsTer?