Canonical Allele Identifier: CA413039512

Gene: RP2

Linked Data

• MyVariant Identifiers: chrX:g.46713187G>A (hg19) ; chrX:g.46853752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46853752G>A , CM000685.2:g.46853752G>A	GRCh38
NC_000023.10:g.46713187G>A , CM000685.1:g.46713187G>A	GRCh37
NC_000023.9:g.46598131G>A	NCBI36
NG_009107.1:g.21841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.379G>A MANE Select	ENSP00000218340.3:p.Val127Ile
ENST00000218340.3:c.379G>A	ENSP00000218340.3:p.Val127Ile
NM_006915.2:c.379G>A	NP_008846.2:p.Val127Ile
NM_006915.3:c.379G>A MANE Select	NP_008846.2:p.Val127Ile