Canonical Allele Identifier: CA2693550263
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836916-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836916C>T , CM000685.2:g.46836916C>T GRCh38
NC_000023.10:g.46696351C>T , CM000685.1:g.46696351C>T GRCh37
NC_000023.9:g.46581295C>T NCBI36
NG_009107.1:g.5005C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006915.2:c.-185C>T NP_008846.2:n.-185C>T