Canonical Allele Identifier: CA5589616
Gene: PAPSS2 HGNC NCBI

Linked Data

dbSNP Id: rs749223667
ExAC: 10:89487127 C / T
gnomAD v2: 10-89487127-C-T
gnomAD v4: 10-87727370-C-T
MyVariant Identifiers: chr10:g.89487127C>T (hg19) chr10:g.87727370C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727370C>T , CM000672.2:g.87727370C>T GRCh38
NC_000010.10:g.89487127C>T , CM000672.1:g.89487127C>T GRCh37
NC_000010.9:g.89477107C>T NCBI36
NG_012150.1:g.72652C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.967C>T MANE Select ENSP00000406157.1:p.Leu323=
ENST00000361175.8:c.952C>T ENSP00000354436.4:p.Leu318=
ENST00000456849.1:c.967C>T ENSP00000406157.1:p.Leu323=
NM_001015880.1:c.967C>T NP_001015880.1:p.Leu323=
NM_004670.3:c.952C>T NP_004661.2:p.Leu318=
NM_001015880.2:c.967C>T MANE Select NP_001015880.1:p.Leu323=
NM_004670.4:c.952C>T NP_004661.2:p.Leu318=
Search 100 bp 5'
Search 100 bp 3'