Canonical Allele Identifier: CA5589609
Gene: PAPSS2 HGNC NCBI

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)
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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
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