Canonical Allele Identifier: CA413039480
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713181C>G (hg19) chrX:g.46853746C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853746C>G , CM000685.2:g.46853746C>G GRCh38
NC_000023.10:g.46713181C>G , CM000685.1:g.46713181C>G GRCh37
NC_000023.9:g.46598125C>G NCBI36
NG_009107.1:g.21835C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.373C>G MANE Select ENSP00000218340.3:p.Leu125Val
ENST00000218340.3:c.373C>G ENSP00000218340.3:p.Leu125Val
NM_006915.2:c.373C>G NP_008846.2:p.Leu125Val
NM_006915.3:c.373C>G MANE Select NP_008846.2:p.Leu125Val
Search 100 bp 5'
Search 100 bp 3'