Canonical Allele Identifier: CA413039617
Gene: RP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853770A>C , CM000685.2:g.46853770A>C GRCh38
NC_000023.10:g.46713205A>C , CM000685.1:g.46713205A>C GRCh37
NC_000023.9:g.46598149A>C NCBI36
NG_009107.1:g.21859A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.397A>C MANE Select ENSP00000218340.3:p.Thr133Pro
ENST00000218340.3:c.397A>C ENSP00000218340.3:p.Thr133Pro
NM_006915.2:c.397A>C NP_008846.2:p.Thr133Pro
NM_006915.3:c.397A>C MANE Select NP_008846.2:p.Thr133Pro