Canonical Allele Identifier: CA5589600

Gene: PAPSS2

Linked Data

• ClinVar Variation Id: 1022650
• ClinVar RCV Id: RCV001322588
• dbSNP Id: rs544558219
• ExAC: 10:89487043 G / A
• gnomAD v2: 10-89487043-G-A
• gnomAD v3: 10-87727286-G-A
• gnomAD v4: 10-87727286-G-A
• MyVariant Identifiers: chr10:g.89487043G>A (hg19) ; chr10:g.87727286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87727286G>A , CM000672.2:g.87727286G>A	GRCh38
NC_000010.10:g.89487043G>A , CM000672.1:g.89487043G>A	GRCh37
NC_000010.9:g.89477023G>A	NCBI36
NG_012150.1:g.72568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.883G>A MANE Select	ENSP00000406157.1:p.Gly295Ser
ENST00000361175.8:c.868G>A	ENSP00000354436.4:p.Gly290Ser
ENST00000456849.1:c.883G>A	ENSP00000406157.1:p.Gly295Ser
NM_001015880.1:c.883G>A	NP_001015880.1:p.Gly295Ser
NM_004670.3:c.868G>A	NP_004661.2:p.Gly290Ser
NM_001015880.2:c.883G>A MANE Select	NP_001015880.1:p.Gly295Ser
NM_004670.4:c.868G>A	NP_004661.2:p.Gly290Ser