Canonical Allele Identifier: CA413039594
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713200G>T (hg19) chrX:g.46853765G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853765G>T , CM000685.2:g.46853765G>T GRCh38
NC_000023.10:g.46713200G>T , CM000685.1:g.46713200G>T GRCh37
NC_000023.9:g.46598144G>T NCBI36
NG_009107.1:g.21854G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.392G>T MANE Select ENSP00000218340.3:p.Cys131Phe
ENST00000218340.3:c.392G>T ENSP00000218340.3:p.Cys131Phe
NM_006915.2:c.392G>T NP_008846.2:p.Cys131Phe
NM_006915.3:c.392G>T MANE Select NP_008846.2:p.Cys131Phe
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