Canonical Allele Identifier: CA516370924
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713181C>T (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.373C>T MANE Select ENSP00000218340.3:p.Leu125=
ENST00000218340.3:c.373C>T ENSP00000218340.3:p.Leu125=
NM_006915.2:c.373C>T NP_008846.2:p.Leu125=
NM_006915.3:c.373C>T MANE Select NP_008846.2:p.Leu125=
Search 100 bp 5'
Search 100 bp 3'