Canonical Allele Identifier: CA377489320
Gene: PAPSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1308403790
gnomAD v2: 10-89487062-T-A
gnomAD v4: 10-87727305-T-A
MyVariant Identifiers: chr10:g.89487062T>A (hg19) chr10:g.87727305T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727305T>A , CM000672.2:g.87727305T>A GRCh38
NC_000010.10:g.89487062T>A , CM000672.1:g.89487062T>A GRCh37
NC_000010.9:g.89477042T>A NCBI36
NG_012150.1:g.72587T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.902T>A MANE Select ENSP00000406157.1:p.Ile301Asn
ENST00000361175.8:c.887T>A ENSP00000354436.4:p.Ile296Asn
ENST00000456849.1:c.902T>A ENSP00000406157.1:p.Ile301Asn
NM_001015880.1:c.902T>A NP_001015880.1:p.Ile301Asn
NM_004670.3:c.887T>A NP_004661.2:p.Ile296Asn
NM_001015880.2:c.902T>A MANE Select NP_001015880.1:p.Ile301Asn
NM_004670.4:c.887T>A NP_004661.2:p.Ile296Asn
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