Canonical Allele Identifier: CA10394161

Gene: RP2

Linked Data

• ClinVar Variation Id: 289614
• ClinVar RCV Id: RCV000263023 ; RCV000369714
• dbSNP Id: rs782402689
• ExAC: X:46696565 G / A
• gnomAD v2: X-46696565-G-A
• gnomAD v3: X-46837130-G-A
• gnomAD v4: X-46837130-G-A
• COSMIC: COSM3694596
• MyVariant Identifiers: chrX:g.46696565G>A (hg19) ; chrX:g.46837130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46837130G>A , CM000685.2:g.46837130G>A	GRCh38
NC_000023.10:g.46696565G>A , CM000685.1:g.46696565G>A	GRCh37
NC_000023.9:g.46581509G>A	NCBI36
NG_009107.1:g.5219G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.30G>A MANE Select	ENSP00000218340.3:p.Lys10=
ENST00000218340.3:c.30G>A	ENSP00000218340.3:p.Lys10=
NM_006915.2:c.30G>A	NP_008846.2:p.Lys10=
NM_006915.3:c.30G>A MANE Select	NP_008846.2:p.Lys10=