Canonical Allele Identifier: CA516254780
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1924897149
MyVariant Identifiers: chrX:g.46712985A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853550A>C , CM000685.2:g.46853550A>C GRCh38
NC_000023.10:g.46712985A>C , CM000685.1:g.46712985A>C GRCh37
NC_000023.9:g.46597929A>C NCBI36
NG_009107.1:g.21639A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.177A>C MANE Select ENSP00000218340.3:p.Gly59=
ENST00000218340.3:c.177A>C ENSP00000218340.3:p.Gly59=
NM_006915.2:c.177A>C NP_008846.2:p.Gly59=
NM_006915.3:c.177A>C MANE Select NP_008846.2:p.Gly59=
Search 100 bp 5'
Search 100 bp 3'