Canonical Allele Identifier: CA916082818
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 856260
ClinVar RCV Id: RCV001061684
dbSNP Id: rs1761917626
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722187del , CM000668.2:g.42722187del GRCh38
NC_000006.11:g.42689925del , CM000668.1:g.42689925del GRCh37
NC_000006.10:g.42797903del NCBI36
NG_009176.1:g.5434del
NG_009176.2:g.5434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.148del MANE Select ENSP00000230381.5:p.Asp50MetfsTer2
ENST00000230381.6:c.148del ENSP00000230381.5:p.Asp50MetfsTer2
NM_000322.4:c.148del NP_000313.2:p.Asp50MetfsTer2
XR_427834.2:n.803del
XR_926295.1:n.803del
XR_427834.4:n.853del
XR_926295.3:n.853del
NM_000322.5:c.148del MANE Select NP_000313.2:p.Asp50MetfsTer2
Search 100 bp 5'
Search 100 bp 3'