Canonical Allele Identifier: CA226309
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98707
ClinVar RCV Id: RCV000085020 RCV002280866
dbSNP Id: rs61755765
MyVariant Identifiers: chr6:g.42689999_42690000del (hg19) chr6:g.42722261_42722262del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722261_42722262del , CM000668.2:g.42722261_42722262del GRCh38
NC_000006.11:g.42689999_42690000del , CM000668.1:g.42689999_42690000del GRCh37
NC_000006.10:g.42797977_42797978del NCBI36
NG_009176.1:g.5359_5360del
NG_009176.2:g.5359_5360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.73_74del MANE Select ENSP00000230381.5:p.Trp25ValfsTer19
ENST00000230381.6:c.73_74del ENSP00000230381.5:p.Trp25ValfsTer19
NM_000322.4:c.73_74del NP_000313.2:p.Trp25ValfsTer19
XR_427834.2:n.728_729del
XR_926295.1:n.728_729del
XR_427834.4:n.778_779del
XR_926295.3:n.778_779del
NM_000322.5:c.73_74del MANE Select NP_000313.2:p.Trp25ValfsTer19
Search 100 bp 5'
Search 100 bp 3'