Canonical Allele Identifier: CA413039151
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2120446
ClinVar RCV Id: RCV003025155

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853638T>C , CM000685.2:g.46853638T>C GRCh38
NC_000023.10:g.46713073T>C , CM000685.1:g.46713073T>C GRCh37
NC_000023.9:g.46598017T>C NCBI36
NG_009107.1:g.21727T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.265T>C MANE Select ENSP00000218340.3:p.Cys89Arg
ENST00000218340.3:c.265T>C ENSP00000218340.3:p.Cys89Arg
NM_006915.2:c.265T>C NP_008846.2:p.Cys89Arg
NM_006915.3:c.265T>C MANE Select NP_008846.2:p.Cys89Arg