Canonical Allele Identifier: CA10581717

Gene: RP2

Linked Data

• ClinVar Variation Id: 236489
• ClinVar RCV Id: RCV000225538
• dbSNP Id: rs878853380
• MyVariant Identifiers: chrX:g.46713068_46713076del (hg19) ; chrX:g.46853633_46853641del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46853633_46853641del , CM000685.2:g.46853633_46853641del	GRCh38
NC_000023.10:g.46713068_46713076del , CM000685.1:g.46713068_46713076del	GRCh37
NC_000023.9:g.46598012_46598020del	NCBI36
NG_009107.1:g.21722_21730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.260_268del MANE Select	ENSP00000218340.3:p.Thr87_Cys89del
ENST00000218340.3:c.260_268del	ENSP00000218340.3:p.Thr87_Cys89del
NM_006915.2:c.260_268del	NP_008846.2:p.Thr87_Cys89del
NM_006915.3:c.260_268del MANE Select	NP_008846.2:p.Thr87_Cys89del