Canonical Allele Identifier: CA1132850954
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1924512742
gnomAD v3: X-46836991-C-T
gnomAD v4: X-46836991-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836991C>T , CM000685.2:g.46836991C>T GRCh38
NC_000023.10:g.46696426C>T , CM000685.1:g.46696426C>T GRCh37
NC_000023.9:g.46581370C>T NCBI36
NG_009107.1:g.5080C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-110C>T ENSP00000218340.3:n.-110C>T
NM_006915.2:c.-110C>T NP_008846.2:n.-110C>T
Search 100 bp 5'
Search 100 bp 3'