Canonical Allele Identifier: CA413039440

Gene: RP2

Linked Data

• MyVariant Identifiers: chrX:g.46713174T>G (hg19) ; chrX:g.46853739T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46853739T>G , CM000685.2:g.46853739T>G	GRCh38
NC_000023.10:g.46713174T>G , CM000685.1:g.46713174T>G	GRCh37
NC_000023.9:g.46598118T>G	NCBI36
NG_009107.1:g.21828T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.366T>G MANE Select	ENSP00000218340.3:p.Cys122Trp
ENST00000218340.3:c.366T>G	ENSP00000218340.3:p.Cys122Trp
NM_006915.2:c.366T>G	NP_008846.2:p.Cys122Trp
NM_006915.3:c.366T>G MANE Select	NP_008846.2:p.Cys122Trp