Canonical Allele Identifier: CA2693550334
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836993-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836993C>G , CM000685.2:g.46836993C>G GRCh38
NC_000023.10:g.46696428C>G , CM000685.1:g.46696428C>G GRCh37
NC_000023.9:g.46581372C>G NCBI36
NG_009107.1:g.5082C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-108C>G ENSP00000218340.3:n.-108C>G
NM_006915.2:c.-108C>G NP_008846.2:n.-108C>G
Search 100 bp 5'
Search 100 bp 3'