Canonical Allele Identifier: CA413039373
Gene: RP2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.46853726G>C
GRCh37 chrX:g.46713161G>C
Revel Score:
ENST00000218340 (MANE Select) 0.953
ClinVar RCV:
RCV001351195
ClinVar Variation:
1046617
dbSNP:
28933687
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853726G>C , CM000685.2:g.46853726G>C GRCh38
NC_000023.10:g.46713161G>C , CM000685.1:g.46713161G>C GRCh37
NC_000023.9:g.46598105G>C NCBI36
NG_009107.1:g.21815G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.353G>C MANE Select ENSP00000218340.3:p.Arg118Pro
ENST00000218340.3:c.353G>C ENSP00000218340.3:p.Arg118Pro
NM_006915.2:c.353G>C NP_008846.2:p.Arg118Pro
NM_006915.3:c.353G>C MANE Select NP_008846.2:p.Arg118Pro
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