Canonical Allele Identifier: CA413039446

Gene: RP2

Linked Data

• gnomAD v4: X-46853740-A-G
• MyVariant Identifiers: chrX:g.46713175A>G (hg19) ; chrX:g.46853740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46853740A>G , CM000685.2:g.46853740A>G	GRCh38
NC_000023.10:g.46713175A>G , CM000685.1:g.46713175A>G	GRCh37
NC_000023.9:g.46598119A>G	NCBI36
NG_009107.1:g.21829A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.367A>G MANE Select	ENSP00000218340.3:p.Arg123Gly
ENST00000218340.3:c.367A>G	ENSP00000218340.3:p.Arg123Gly
NM_006915.2:c.367A>G	NP_008846.2:p.Arg123Gly
NM_006915.3:c.367A>G MANE Select	NP_008846.2:p.Arg123Gly