Canonical Allele Identifier: CA413038183

Gene: RP2

Linked Data

• MyVariant Identifiers: chrX:g.46696558G>C (hg19) ; chrX:g.46837123G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46837123G>C , CM000685.2:g.46837123G>C	GRCh38
NC_000023.10:g.46696558G>C , CM000685.1:g.46696558G>C	GRCh37
NC_000023.9:g.46581502G>C	NCBI36
NG_009107.1:g.5212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.23G>C MANE Select	ENSP00000218340.3:p.Arg8Thr
ENST00000218340.3:c.23G>C	ENSP00000218340.3:p.Arg8Thr
NM_006915.2:c.23G>C	NP_008846.2:p.Arg8Thr
NM_006915.3:c.23G>C MANE Select	NP_008846.2:p.Arg8Thr