Canonical Allele Identifier: CA2610038248

Gene: PAPSS2

Linked Data

• gnomAD v4: 10-87727342-ACGGCTGGAAGGGTGCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87727344_87727360del , CM000672.2:g.87727344_87727360del	GRCh38
NC_000010.10:g.89487101_89487117del , CM000672.1:g.89487101_89487117del	GRCh37
NC_000010.9:g.89477081_89477097del	NCBI36
NG_012150.1:g.72626_72642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.941_957del MANE Select	ENSP00000406157.1:p.Arg314GlnfsTer18
ENST00000361175.8:c.926_942del	ENSP00000354436.4:p.Arg309GlnfsTer18
ENST00000456849.1:c.941_957del	ENSP00000406157.1:p.Arg314GlnfsTer18
NM_001015880.1:c.941_957del	NP_001015880.1:p.Arg314GlnfsTer18
NM_004670.3:c.926_942del	NP_004661.2:p.Arg309GlnfsTer18
NM_001015880.2:c.941_957del MANE Select	NP_001015880.1:p.Arg314GlnfsTer18
NM_004670.4:c.926_942del	NP_004661.2:p.Arg309GlnfsTer18