Canonical Allele Identifier: CA516370717
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713084T>C (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.276T>C MANE Select ENSP00000218340.3:p.Phe92=
ENST00000218340.3:c.276T>C ENSP00000218340.3:p.Phe92=
NM_006915.2:c.276T>C NP_008846.2:p.Phe92=
NM_006915.3:c.276T>C MANE Select NP_008846.2:p.Phe92=
Search 100 bp 5'
Search 100 bp 3'