Canonical Allele Identifier: CA413039438
Gene: RP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853739T>A , CM000685.2:g.46853739T>A GRCh38
NC_000023.10:g.46713174T>A , CM000685.1:g.46713174T>A GRCh37
NC_000023.9:g.46598118T>A NCBI36
NG_009107.1:g.21828T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.366T>A MANE Select ENSP00000218340.3:p.Cys122Ter
ENST00000218340.3:c.366T>A ENSP00000218340.3:p.Cys122Ter
NM_006915.2:c.366T>A NP_008846.2:p.Cys122Ter
NM_006915.3:c.366T>A MANE Select NP_008846.2:p.Cys122Ter