Canonical Allele Identifier: CA2427726131
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1305419974
gnomAD v4: X-46836960-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836960C>G , CM000685.2:g.46836960C>G GRCh38
NC_000023.10:g.46696395C>G , CM000685.1:g.46696395C>G GRCh37
NC_000023.9:g.46581339C>G NCBI36
NG_009107.1:g.5049C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-141C>G ENSP00000218340.3:n.-141C>G
NM_006915.2:c.-141C>G NP_008846.2:n.-141C>G