Canonical Allele Identifier: CA2427731417
Community Standard Title: NM_006915.3(RP2):c.353G= (p.Arg118=)
Gene: RP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853726G= , CM000685.2:g.46853726G= GRCh38
NC_000023.10:g.46713161G= , CM000685.1:g.46713161G= GRCh37
NC_000023.9:g.46598105G= NCBI36
NG_009107.1:g.21815G=

Transcript Alleles

HGVS Amino-acid Change
NM_006915.3:c.353G= MANE Select NP_008846.2:p.Arg118=
ENST00000218340.4:c.353G= MANE Select ENSP00000218340.3:p.Arg118=
NM_006915.2:c.353G= NP_008846.2:p.Arg118=
ENST00000218340.3:c.353G= ENSP00000218340.3:p.Arg118=