Canonical Allele Identifier: CA10394230

Gene: RP2

Linked Data

• ClinVar Variation Id: 368308
• ClinVar RCV Id: RCV000271838 ; RCV001373667
• dbSNP Id: rs781878275
• ExAC: X:46713458 A / G
• gnomAD v2: X-46713458-A-G
• gnomAD v3: X-46854023-A-G
• gnomAD v4: X-46854023-A-G
• MyVariant Identifiers: chrX:g.46713458A>G (hg19) ; chrX:g.46854023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46854023A>G , CM000685.2:g.46854023A>G	GRCh38
NC_000023.10:g.46713458A>G , CM000685.1:g.46713458A>G	GRCh37
NC_000023.9:g.46598402A>G	NCBI36
NG_009107.1:g.22112A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.650A>G MANE Select	ENSP00000218340.3:p.Asn217Ser
ENST00000218340.3:c.650A>G	ENSP00000218340.3:p.Asn217Ser
NM_006915.2:c.650A>G	NP_008846.2:p.Asn217Ser
NM_006915.3:c.650A>G MANE Select	NP_008846.2:p.Asn217Ser