Canonical Allele Identifier: CA413039380
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713163G>T (hg19) chrX:g.46853728G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853728G>T , CM000685.2:g.46853728G>T GRCh38
NC_000023.10:g.46713163G>T , CM000685.1:g.46713163G>T GRCh37
NC_000023.9:g.46598107G>T NCBI36
NG_009107.1:g.21817G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.355G>T MANE Select ENSP00000218340.3:p.Val119Leu
ENST00000218340.3:c.355G>T ENSP00000218340.3:p.Val119Leu
NM_006915.2:c.355G>T NP_008846.2:p.Val119Leu
NM_006915.3:c.355G>T MANE Select NP_008846.2:p.Val119Leu
Search 100 bp 5'
Search 100 bp 3'