Canonical Allele Identifier: CA5589629
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2672405
ClinVar RCV Id: RCV003456712
dbSNP Id: rs752982930
ExAC: 10:89487197 G / C
gnomAD v2: 10-89487197-G-C
gnomAD v3: 10-87727440-G-C
gnomAD v4: 10-87727440-G-C
MyVariant Identifiers: chr10:g.89487197G>C (hg19) chr10:g.87727440G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727440G>C , CM000672.2:g.87727440G>C GRCh38
NC_000010.10:g.89487197G>C , CM000672.1:g.89487197G>C GRCh37
NC_000010.9:g.89477177G>C NCBI36
NG_012150.1:g.72722G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.1037G>C MANE Select ENSP00000406157.1:p.Arg346Pro
ENST00000361175.8:c.1022G>C ENSP00000354436.4:p.Arg341Pro
ENST00000456849.1:c.1037G>C ENSP00000406157.1:p.Arg346Pro
NM_001015880.1:c.1037G>C NP_001015880.1:p.Arg346Pro
NM_004670.3:c.1022G>C NP_004661.2:p.Arg341Pro
NM_001015880.2:c.1037G>C MANE Select NP_001015880.1:p.Arg346Pro
NM_004670.4:c.1022G>C NP_004661.2:p.Arg341Pro
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