Canonical Allele Identifier: CA413038920
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2081129
ClinVar RCV Id: RCV002994046
MyVariant Identifiers: chrX:g.46712972G>T (hg19) chrX:g.46853537G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853537G>T , CM000685.2:g.46853537G>T GRCh38
NC_000023.10:g.46712972G>T , CM000685.1:g.46712972G>T GRCh37
NC_000023.9:g.46597916G>T NCBI36
NG_009107.1:g.21626G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.164G>T MANE Select ENSP00000218340.3:p.Gly55Val
ENST00000218340.3:c.164G>T ENSP00000218340.3:p.Gly55Val
NM_006915.2:c.164G>T NP_008846.2:p.Gly55Val
NM_006915.3:c.164G>T MANE Select NP_008846.2:p.Gly55Val
Search 100 bp 5'
Search 100 bp 3'