Canonical Allele Identifier: CA10394159

Gene: RP2

Linked Data

• ClinVar Variation Id: 418458
• ClinVar RCV Id: RCV000479201 ; RCV002470866
• dbSNP Id: rs782344765
• ExAC: X:46696543 G / C
• gnomAD v2: X-46696543-G-C
• gnomAD v3: X-46837108-G-C
• gnomAD v4: X-46837108-G-C
• MyVariant Identifiers: chrX:g.46696543G>C (hg19) ; chrX:g.46837108G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46837108G>C , CM000685.2:g.46837108G>C	GRCh38
NC_000023.10:g.46696543G>C , CM000685.1:g.46696543G>C	GRCh37
NC_000023.9:g.46581487G>C	NCBI36
NG_009107.1:g.5197G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.8G>C MANE Select	ENSP00000218340.3:p.Cys3Ser
ENST00000218340.3:c.8G>C	ENSP00000218340.3:p.Cys3Ser
NM_006915.2:c.8G>C	NP_008846.2:p.Cys3Ser
NM_006915.3:c.8G>C MANE Select	NP_008846.2:p.Cys3Ser