Canonical Allele Identifier: CA5589606
Gene: PAPSS2 HGNC NCBI

Linked Data

dbSNP Id: rs765764640
ExAC: 10:89487067 A / G
gnomAD v2: 10-89487067-A-G
gnomAD v3: 10-87727310-A-G
gnomAD v4: 10-87727310-A-G
MyVariant Identifiers: chr10:g.89487067A>G (hg19) chr10:g.87727310A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727310A>G , CM000672.2:g.87727310A>G GRCh38
NC_000010.10:g.89487067A>G , CM000672.1:g.89487067A>G GRCh37
NC_000010.9:g.89477047A>G NCBI36
NG_012150.1:g.72592A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.907A>G MANE Select ENSP00000406157.1:p.Ile303Val
ENST00000361175.8:c.892A>G ENSP00000354436.4:p.Ile298Val
ENST00000456849.1:c.907A>G ENSP00000406157.1:p.Ile303Val
NM_001015880.1:c.907A>G NP_001015880.1:p.Ile303Val
NM_004670.3:c.892A>G NP_004661.2:p.Ile298Val
NM_001015880.2:c.907A>G MANE Select NP_001015880.1:p.Ile303Val
NM_004670.4:c.892A>G NP_004661.2:p.Ile298Val
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