Canonical Allele Identifier: CA2693550268
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836927-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836927C>G , CM000685.2:g.46836927C>G GRCh38
NC_000023.10:g.46696362C>G , CM000685.1:g.46696362C>G GRCh37
NC_000023.9:g.46581306C>G NCBI36
NG_009107.1:g.5016C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006915.2:c.-174C>G NP_008846.2:n.-174C>G