Canonical Allele Identifier: CA211271699

Gene: PAPSS2

Linked Data

• dbSNP Id: rs754039934
• gnomAD v4: 10-87727326-C-T
• MyVariant Identifiers: chr10:g.89487083C>T (hg19) ; chr10:g.87727326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87727326C>T , CM000672.2:g.87727326C>T	GRCh38
NC_000010.10:g.89487083C>T , CM000672.1:g.89487083C>T	GRCh37
NC_000010.9:g.89477063C>T	NCBI36
NG_012150.1:g.72608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.923C>T MANE Select	ENSP00000406157.1:p.Ser308Phe
ENST00000361175.8:c.908C>T	ENSP00000354436.4:p.Ser303Phe
ENST00000456849.1:c.923C>T	ENSP00000406157.1:p.Ser308Phe
NM_001015880.1:c.923C>T	NP_001015880.1:p.Ser308Phe
NM_004670.3:c.908C>T	NP_004661.2:p.Ser303Phe
NM_001015880.2:c.923C>T MANE Select	NP_001015880.1:p.Ser308Phe
NM_004670.4:c.908C>T	NP_004661.2:p.Ser303Phe