Canonical Allele Identifier: CA2427731430
Gene: RP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853764_46853765delinsTG , CM000685.2:g.46853764_46853765delinsTG GRCh38
NC_000023.10:g.46713199_46713200delinsTG , CM000685.1:g.46713199_46713200delinsTG GRCh37
NC_000023.9:g.46598143_46598144delinsTG NCBI36
NG_009107.1:g.21853_21854delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.391_392delinsTG MANE Select ENSP00000218340.3:p.Cys131=
ENST00000218340.3:c.391_392delinsTG ENSP00000218340.3:p.Cys131=
NM_006915.2:c.391_392delinsTG NP_008846.2:p.Cys131=
NM_006915.3:c.391_392delinsTG MANE Select NP_008846.2:p.Cys131=
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