Canonical Allele Identifier: CA916083938
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 866868
ClinVar RCV Id: RCV001075218
dbSNP Id: rs1924896735
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853541_46853551del , CM000685.2:g.46853541_46853551del GRCh38
NC_000023.10:g.46712976_46712986del , CM000685.1:g.46712976_46712986del GRCh37
NC_000023.9:g.46597920_46597930del NCBI36
NG_009107.1:g.21630_21640del

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.168_178del MANE Select ENSP00000218340.3:p.Val57ThrfsTer8
ENST00000218340.3:c.168_178del ENSP00000218340.3:p.Val57ThrfsTer8
NM_006915.2:c.168_178del NP_008846.2:p.Val57ThrfsTer8
NM_006915.3:c.168_178del MANE Select NP_008846.2:p.Val57ThrfsTer8
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