Canonical Allele Identifier: CA594914394
Gene: PAPSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1437772231
gnomAD v2: 10-89469116-G-A
gnomAD v4: 10-87709359-G-A
MyVariant Identifiers: chr10:g.89469116G>A (hg19) chr10:g.87709359G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709359G>A , CM000672.2:g.87709359G>A GRCh38
NC_000010.10:g.89469116G>A , CM000672.1:g.89469116G>A GRCh37
NC_000010.9:g.89459096G>A NCBI36
NG_012150.1:g.54641G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.145+46G>A MANE Select ENSP00000406157.1:n.145+46G>A
ENST00000361175.8:c.145+46G>A ENSP00000354436.4:n.145+46G>A
ENST00000456849.1:c.145+46G>A ENSP00000406157.1:n.145+46G>A
ENST00000465996.5:n.167+46G>A
ENST00000482258.1:n.188+46G>A
NM_001015880.1:c.145+46G>A NP_001015880.1:n.145+46G>A
NM_004670.3:c.145+46G>A NP_004661.2:n.145+46G>A
NM_001015880.2:c.145+46G>A MANE Select NP_001015880.1:n.145+46G>A
NM_004670.4:c.145+46G>A NP_004661.2:n.145+46G>A
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