Canonical Allele Identifier: CA413038940
Gene: RP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853548G>C , CM000685.2:g.46853548G>C GRCh38
NC_000023.10:g.46712983G>C , CM000685.1:g.46712983G>C GRCh37
NC_000023.9:g.46597927G>C NCBI36
NG_009107.1:g.21637G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.175G>C MANE Select ENSP00000218340.3:p.Gly59Arg
ENST00000218340.3:c.175G>C ENSP00000218340.3:p.Gly59Arg
NM_006915.2:c.175G>C NP_008846.2:p.Gly59Arg
NM_006915.3:c.175G>C MANE Select NP_008846.2:p.Gly59Arg