Canonical Allele Identifier: CA5589405

Gene: PAPSS2

Linked Data

• ClinVar Variation Id: 283365
• ClinVar RCV Id: RCV000355504 ; RCV000959916 ; RCV001795481
• dbSNP Id: rs145230931
• ExAC: 10:89473061 C / T
• gnomAD v2: 10-89473061-C-T
• gnomAD v3: 10-87713304-C-T
• gnomAD v4: 10-87713304-C-T
• MyVariant Identifiers: chr10:g.89473061C>T (hg19) ; chr10:g.89473061_89473062delinsTG (hg19) ; chr10:g.87713304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87713304C>T , CM000672.2:g.87713304C>T	GRCh38
NC_000010.10:g.89473061C>T , CM000672.1:g.89473061C>T	GRCh37
NC_000010.9:g.89463041C>T	NCBI36
NG_012150.1:g.58586C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.375C>T MANE Select	ENSP00000406157.1:p.Phe125=
ENST00000361175.8:c.375C>T	ENSP00000354436.4:p.Phe125=
ENST00000456849.1:c.375C>T	ENSP00000406157.1:p.Phe125=
ENST00000482258.1:n.418C>T
NM_001015880.1:c.375C>T	NP_001015880.1:p.Phe125=
NM_004670.3:c.375C>T	NP_004661.2:p.Phe125=
NM_001015880.2:c.375C>T MANE Select	NP_001015880.1:p.Phe125=
NM_004670.4:c.375C>T	NP_004661.2:p.Phe125=