Canonical Allele Identifier: CA516370428
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1224952144
MyVariant Identifiers: chrX:g.46713309C>T (hg19) chrX:g.46853874C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853874C>T , CM000685.2:g.46853874C>T GRCh38
NC_000023.10:g.46713309C>T , CM000685.1:g.46713309C>T GRCh37
NC_000023.9:g.46598253C>T NCBI36
NG_009107.1:g.21963C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.501C>T MANE Select ENSP00000218340.3:p.Phe167=
ENST00000218340.3:c.501C>T ENSP00000218340.3:p.Phe167=
NM_006915.2:c.501C>T NP_008846.2:p.Phe167=
NM_006915.3:c.501C>T MANE Select NP_008846.2:p.Phe167=
Search 100 bp 5'
Search 100 bp 3'