Canonical Allele Identifier: CA377489521

Gene: PAPSS2

Linked Data

• dbSNP Id: rs1246013772
• gnomAD v2: 10-89487163-G-A
• MyVariant Identifiers: chr10:g.89487163G>A (hg19) ; chr10:g.87727406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87727406G>A , CM000672.2:g.87727406G>A	GRCh38
NC_000010.10:g.89487163G>A , CM000672.1:g.89487163G>A	GRCh37
NC_000010.9:g.89477143G>A	NCBI36
NG_012150.1:g.72688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.1003G>A MANE Select	ENSP00000406157.1:p.Asp335Asn
ENST00000361175.8:c.988G>A	ENSP00000354436.4:p.Asp330Asn
ENST00000456849.1:c.1003G>A	ENSP00000406157.1:p.Asp335Asn
NM_001015880.1:c.1003G>A	NP_001015880.1:p.Asp335Asn
NM_004670.3:c.988G>A	NP_004661.2:p.Asp330Asn
NM_001015880.2:c.1003G>A MANE Select	NP_001015880.1:p.Asp335Asn
NM_004670.4:c.988G>A	NP_004661.2:p.Asp330Asn