Canonical Allele Identifier: CA211241648
Gene: PAPSS2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87745909T>C , CM000672.2:g.87745909T>C GRCh38
NC_000010.10:g.89505666T>C , CM000672.1:g.89505666T>C GRCh37
NC_000010.9:g.89495646T>C NCBI36
NG_012150.1:g.91191T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.1799T>C MANE Select ENSP00000406157.1:p.Phe600Ser
ENST00000361175.8:c.1784T>C ENSP00000354436.4:p.Phe595Ser
ENST00000456849.1:c.1799T>C ENSP00000406157.1:p.Phe600Ser
NM_001015880.1:c.1799T>C NP_001015880.1:p.Phe600Ser
NM_004670.3:c.1784T>C NP_004661.2:p.Phe595Ser
NM_001015880.2:c.1799T>C MANE Select NP_001015880.1:p.Phe600Ser
NM_004670.4:c.1784T>C NP_004661.2:p.Phe595Ser