Canonical Allele Identifier: CA413039483

Gene: RP2

Linked Data

• MyVariant Identifiers: chrX:g.46713181C>A (hg19) ; chrX:g.46853746C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46853746C>A , CM000685.2:g.46853746C>A	GRCh38
NC_000023.10:g.46713181C>A , CM000685.1:g.46713181C>A	GRCh37
NC_000023.9:g.46598125C>A	NCBI36
NG_009107.1:g.21835C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.373C>A MANE Select	ENSP00000218340.3:p.Leu125Met
ENST00000218340.3:c.373C>A	ENSP00000218340.3:p.Leu125Met
NM_006915.2:c.373C>A	NP_008846.2:p.Leu125Met
NM_006915.3:c.373C>A MANE Select	NP_008846.2:p.Leu125Met