Canonical Allele Identifier: CA413038925
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3005624
ClinVar RCV Id: RCV003863711
MyVariant Identifiers: chrX:g.46712975C>G (hg19) chrX:g.46853540C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853540C>G , CM000685.2:g.46853540C>G GRCh38
NC_000023.10:g.46712975C>G , CM000685.1:g.46712975C>G GRCh37
NC_000023.9:g.46597919C>G NCBI36
NG_009107.1:g.21629C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.167C>G MANE Select ENSP00000218340.3:p.Thr56Arg
ENST00000218340.3:c.167C>G ENSP00000218340.3:p.Thr56Arg
NM_006915.2:c.167C>G NP_008846.2:p.Thr56Arg
NM_006915.3:c.167C>G MANE Select NP_008846.2:p.Thr56Arg
Search 100 bp 5'
Search 100 bp 3'