Canonical Allele Identifier: CA2739290481
Gene: RP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853645_46853646delinsC , CM000685.2:g.46853645_46853646delinsC GRCh38
NC_000023.10:g.46713080_46713081delinsC , CM000685.1:g.46713080_46713081delinsC GRCh37
NC_000023.9:g.46598024_46598025delinsC NCBI36
NG_009107.1:g.21734_21735delinsC

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.272_273delinsC MANE Select ENSP00000218340.3:p.Ile91ThrfsTer6
ENST00000218340.3:c.272_273delinsC ENSP00000218340.3:p.Ile91ThrfsTer6
NM_006915.2:c.272_273delinsC NP_008846.2:p.Ile91ThrfsTer6
NM_006915.3:c.272_273delinsC MANE Select NP_008846.2:p.Ile91ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'