Canonical Allele Identifier: CA413039177
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713084T>A (hg19) chrX:g.46853649T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853649T>A , CM000685.2:g.46853649T>A GRCh38
NC_000023.10:g.46713084T>A , CM000685.1:g.46713084T>A GRCh37
NC_000023.9:g.46598028T>A NCBI36
NG_009107.1:g.21738T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.276T>A MANE Select ENSP00000218340.3:p.Phe92Leu
ENST00000218340.3:c.276T>A ENSP00000218340.3:p.Phe92Leu
NM_006915.2:c.276T>A NP_008846.2:p.Phe92Leu
NM_006915.3:c.276T>A MANE Select NP_008846.2:p.Phe92Leu
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