Canonical Allele Identifier: CA516370675
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713066T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853631T>C , CM000685.2:g.46853631T>C GRCh38
NC_000023.10:g.46713066T>C , CM000685.1:g.46713066T>C GRCh37
NC_000023.9:g.46598010T>C NCBI36
NG_009107.1:g.21720T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.258T>C MANE Select ENSP00000218340.3:p.Cys86=
ENST00000218340.3:c.258T>C ENSP00000218340.3:p.Cys86=
NM_006915.2:c.258T>C NP_008846.2:p.Cys86=
NM_006915.3:c.258T>C MANE Select NP_008846.2:p.Cys86=