Canonical Allele Identifier: CA875783977
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1461713182
gnomAD v3: X-46836978-C-T
gnomAD v4: X-46836978-C-T
MyVariant Identifiers: chrX:g.46836978C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836978C>T , CM000685.2:g.46836978C>T GRCh38
NC_000023.10:g.46696413C>T , CM000685.1:g.46696413C>T GRCh37
NC_000023.9:g.46581357C>T NCBI36
NG_009107.1:g.5067C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-123C>T ENSP00000218340.3:n.-123C>T
NM_006915.2:c.-123C>T NP_008846.2:n.-123C>T