Canonical Allele Identifier: CA2693550310
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836974-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836974G>C , CM000685.2:g.46836974G>C GRCh38
NC_000023.10:g.46696409G>C , CM000685.1:g.46696409G>C GRCh37
NC_000023.9:g.46581353G>C NCBI36
NG_009107.1:g.5063G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-127G>C ENSP00000218340.3:n.-127G>C
NM_006915.2:c.-127G>C NP_008846.2:n.-127G>C