Canonical Allele Identifier: CA516252066

Gene: RP2

Linked Data

• ClinVar Variation Id: 427872
• ClinVar RCV Id: RCV000515686 ; RCV000990803 ; RCV001051097
• dbSNP Id: rs1556313552
• gnomAD v2: X-46696637-G-A
• MyVariant Identifiers: chrX:g.46696637G>A (hg19) ; chrX:g.46837202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46837202G>A , CM000685.2:g.46837202G>A	GRCh38
NC_000023.10:g.46696637G>A , CM000685.1:g.46696637G>A	GRCh37
NC_000023.9:g.46581581G>A	NCBI36
NG_009107.1:g.5291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.102G>A MANE Select	ENSP00000218340.3:p.Lys34=
ENST00000218340.3:c.102G>A	ENSP00000218340.3:p.Lys34=
NM_006915.2:c.102G>A	NP_008846.2:p.Lys34=
NM_006915.3:c.102G>A MANE Select	NP_008846.2:p.Lys34=