Canonical Allele Identifier: CA2610036378

Gene: PAPSS2

Linked Data

• gnomAD v4: 10-87713269-G-GACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87713269_87713270insACCA , CM000672.2:g.87713269_87713270insACCA	GRCh38
NC_000010.10:g.89473026_89473027insACCA , CM000672.1:g.89473026_89473027insACCA	GRCh37
NC_000010.9:g.89463006_89463007insACCA	NCBI36
NG_012150.1:g.58551_58552insACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.340_341insACCA MANE Select	ENSP00000406157.1:p.Gly114AspfsTer18
ENST00000361175.8:c.340_341insACCA	ENSP00000354436.4:p.Gly114AspfsTer18
ENST00000456849.1:c.340_341insACCA	ENSP00000406157.1:p.Gly114AspfsTer18
ENST00000482258.1:n.383_384insACCA
NM_001015880.1:c.340_341insACCA	NP_001015880.1:p.Gly114AspfsTer18
NM_004670.3:c.340_341insACCA	NP_004661.2:p.Gly114AspfsTer18
NM_001015880.2:c.340_341insACCA MANE Select	NP_001015880.1:p.Gly114AspfsTer18
NM_004670.4:c.340_341insACCA	NP_004661.2:p.Gly114AspfsTer18