Canonical Allele Identifier: CA2839151806
Gene: RP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853696dup , CM000685.2:g.46853696dup GRCh38
NC_000023.10:g.46713131dup , CM000685.1:g.46713131dup GRCh37
NC_000023.9:g.46598075dup NCBI36
NG_009107.1:g.21785dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.323dup MANE Select ENSP00000218340.3:p.Cys108TrpfsTer16
ENST00000218340.3:c.323dup ENSP00000218340.3:p.Cys108TrpfsTer16
NM_006915.2:c.323dup NP_008846.2:p.Cys108TrpfsTer16
NM_006915.3:c.323dup MANE Select NP_008846.2:p.Cys108TrpfsTer16