Canonical Allele Identifier: CA5589609

Gene: PAPSS2

Linked Data

• ClinVar Variation Id: 1042093
• ClinVar RCV Id: RCV001345993
• dbSNP Id: rs762088120
• ExAC: 10:89487079 G / A
• gnomAD v2: 10-89487079-G-A
• gnomAD v3: 10-87727322-G-A
• gnomAD v4: 10-87727322-G-A
• COSMIC: COSM283700
• MyVariant Identifiers: chr10:g.89487079G>A (hg19) ; chr10:g.87727322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87727322G>A , CM000672.2:g.87727322G>A	GRCh38
NC_000010.10:g.89487079G>A , CM000672.1:g.89487079G>A	GRCh37
NC_000010.9:g.89477059G>A	NCBI36
NG_012150.1:g.72604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.919G>A MANE Select	ENSP00000406157.1:p.Val307Ile
ENST00000361175.8:c.904G>A	ENSP00000354436.4:p.Val302Ile
ENST00000456849.1:c.919G>A	ENSP00000406157.1:p.Val307Ile
NM_001015880.1:c.919G>A	NP_001015880.1:p.Val307Ile
NM_004670.3:c.904G>A	NP_004661.2:p.Val302Ile
NM_001015880.2:c.919G>A MANE Select	NP_001015880.1:p.Val307Ile
NM_004670.4:c.904G>A	NP_004661.2:p.Val302Ile