Canonical Allele Identifier: CA377488029
Gene: PAPSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1683428
ClinVar RCV Id: RCV002238700
dbSNP Id: rs794727710
gnomAD v2: 10-89474621-G-A
gnomAD v3: 10-87714864-G-A
gnomAD v4: 10-87714864-G-A
MyVariant Identifiers: chr10:g.89474621G>A (hg19) chr10:g.87714864G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87714864G>A , CM000672.2:g.87714864G>A GRCh38
NC_000010.10:g.89474621G>A , CM000672.1:g.89474621G>A GRCh37
NC_000010.9:g.89464601G>A NCBI36
NG_012150.1:g.60146G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456849.2:c.639+1G>A MANE Select ENSP00000406157.1:n.639+1G>A
ENST00000361175.8:c.639+1G>A ENSP00000354436.4:n.639+1G>A
ENST00000456849.1:c.639+1G>A ENSP00000406157.1:n.639+1G>A
NM_001015880.1:c.639+1G>A NP_001015880.1:n.639+1G>A
NM_004670.3:c.639+1G>A NP_004661.2:n.639+1G>A
NM_001015880.2:c.639+1G>A MANE Select NP_001015880.1:n.639+1G>A
NM_004670.4:c.639+1G>A NP_004661.2:n.639+1G>A
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