Canonical Allele Identifier: CA516254717
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46712973G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853538G>A , CM000685.2:g.46853538G>A GRCh38
NC_000023.10:g.46712973G>A , CM000685.1:g.46712973G>A GRCh37
NC_000023.9:g.46597917G>A NCBI36
NG_009107.1:g.21627G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.165G>A MANE Select ENSP00000218340.3:p.Gly55=
ENST00000218340.3:c.165G>A ENSP00000218340.3:p.Gly55=
NM_006915.2:c.165G>A NP_008846.2:p.Gly55=
NM_006915.3:c.165G>A MANE Select NP_008846.2:p.Gly55=