Canonical Allele Identifier: CA211255619

Gene: PAPSS2

Linked Data

• dbSNP Id: rs199631081
• gnomAD v2: 10-89469087-T-C
• gnomAD v4: 10-87709330-T-C
• MyVariant Identifiers: chr10:g.89469087T>C (hg19) ; chr10:g.87709330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87709330T>C , CM000672.2:g.87709330T>C	GRCh38
NC_000010.10:g.89469087T>C , CM000672.1:g.89469087T>C	GRCh37
NC_000010.9:g.89459067T>C	NCBI36
NG_012150.1:g.54612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.145+17T>C MANE Select	ENSP00000406157.1:n.145+17T>C
ENST00000361175.8:c.145+17T>C	ENSP00000354436.4:n.145+17T>C
ENST00000456849.1:c.145+17T>C	ENSP00000406157.1:n.145+17T>C
ENST00000465996.5:n.167+17T>C
ENST00000482258.1:n.188+17T>C
NM_001015880.1:c.145+17T>C	NP_001015880.1:n.145+17T>C
NM_004670.3:c.145+17T>C	NP_004661.2:n.145+17T>C
NM_001015880.2:c.145+17T>C MANE Select	NP_001015880.1:n.145+17T>C
NM_004670.4:c.145+17T>C	NP_004661.2:n.145+17T>C