Canonical Allele Identifier: CA211271747
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1442969
ClinVar RCV Id: RCV001960403
dbSNP Id: rs953188794
gnomAD v2: 10-89487110-G-T
gnomAD v3: 10-87727353-G-T
gnomAD v4: 10-87727353-G-T
MyVariant Identifiers: chr10:g.89487110G>T (hg19) chr10:g.87727353G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727353G>T , CM000672.2:g.87727353G>T GRCh38
NC_000010.10:g.89487110G>T , CM000672.1:g.89487110G>T GRCh37
NC_000010.9:g.89477090G>T NCBI36
NG_012150.1:g.72635G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.950G>T MANE Select ENSP00000406157.1:p.Gly317Val
ENST00000361175.8:c.935G>T ENSP00000354436.4:p.Gly312Val
ENST00000456849.1:c.950G>T ENSP00000406157.1:p.Gly317Val
NM_001015880.1:c.950G>T NP_001015880.1:p.Gly317Val
NM_004670.3:c.935G>T NP_004661.2:p.Gly312Val
NM_001015880.2:c.950G>T MANE Select NP_001015880.1:p.Gly317Val
NM_004670.4:c.935G>T NP_004661.2:p.Gly312Val
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