Canonical Allele Identifier: CA5589610
Gene: PAPSS2 HGNC NCBI

Linked Data

dbSNP Id: rs751727686
ExAC: 10:89487091 G / C
gnomAD v2: 10-89487091-G-C
gnomAD v4: 10-87727334-G-C
MyVariant Identifiers: chr10:g.89487091G>C (hg19) chr10:g.87727334G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727334G>C , CM000672.2:g.87727334G>C GRCh38
NC_000010.10:g.89487091G>C , CM000672.1:g.89487091G>C GRCh37
NC_000010.9:g.89477071G>C NCBI36
NG_012150.1:g.72616G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.931G>C MANE Select ENSP00000406157.1:p.Asp311His
ENST00000361175.8:c.916G>C ENSP00000354436.4:p.Asp306His
ENST00000456849.1:c.931G>C ENSP00000406157.1:p.Asp311His
NM_001015880.1:c.931G>C NP_001015880.1:p.Asp311His
NM_004670.3:c.916G>C NP_004661.2:p.Asp306His
NM_001015880.2:c.931G>C MANE Select NP_001015880.1:p.Asp311His
NM_004670.4:c.916G>C NP_004661.2:p.Asp306His
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