Canonical Allele Identifier: CA2840200922
Gene: RP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853749dup , CM000685.2:g.46853749dup GRCh38
NC_000023.10:g.46713184dup , CM000685.1:g.46713184dup GRCh37
NC_000023.9:g.46598128dup NCBI36
NG_009107.1:g.21838dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.376dup MANE Select ENSP00000218340.3:p.Glu126GlyfsTer13
ENST00000218340.3:c.376dup ENSP00000218340.3:p.Glu126GlyfsTer13
NM_006915.2:c.376dup NP_008846.2:p.Glu126GlyfsTer13
NM_006915.3:c.376dup MANE Select NP_008846.2:p.Glu126GlyfsTer13