Canonical Allele Identifier: CA412400816
Gene: PRPS2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.12820693A>C
GRCh37 chrX:g.12838812A>C
Revel Score:
ENST00000380668 (MANE Select) 0.694
ENST00000398491 0.694
ENST00000461630 0.694
ENST00000460220 0.694
ClinVar RCV:
RCV004269656
ClinVar Variation:
2478700
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.12820693A>C , CM000685.2:g.12820693A>C GRCh38
NC_000023.10:g.12838812A>C , CM000685.1:g.12838812A>C GRCh37
NC_000023.9:g.12748733A>C NCBI36
NG_016717.1:g.34339A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380668.10:c.754A>C MANE Select ENSP00000370043.5:p.Ile252Leu
ENST00000380668.9:c.754A>C ENSP00000370043.5:p.Ile252Leu
ENST00000398491.6:c.763A>C ENSP00000381504.2:p.Ile255Leu
ENST00000461630.1:c.319A>C ENSP00000418911.1:p.Ile107Leu
NM_001039091.2:c.763A>C NP_001034180.1:p.Ile255Leu
NM_002765.4:c.754A>C NP_002756.1:p.Ile252Leu
NM_001039091.3:c.763A>C NP_001034180.1:p.Ile255Leu
NM_002765.5:c.754A>C MANE Select NP_002756.1:p.Ile252Leu
Search 100 bp 5'
Search 100 bp 3'