Canonical Allele Identifier: CA2573140734
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365300
ClinVar RCV Id: RCV001942617
dbSNP Id: rs2152010910
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721827del , CM000668.2:g.42721827del GRCh38
NC_000006.11:g.42689565del , CM000668.1:g.42689565del GRCh37
NC_000006.10:g.42797543del NCBI36
NG_009176.1:g.5795del
NG_009176.2:g.5795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.509del MANE Select ENSP00000230381.5:p.Gly170ValfsTer?
ENST00000230381.6:c.509del ENSP00000230381.5:p.Gly170ValfsTer?
NM_000322.4:c.509del NP_000313.2:p.Gly170ValfsTer?
XR_427834.2:n.1164del
XR_926295.1:n.1164del
XR_427834.4:n.1214del
XR_926295.3:n.1214del
NM_000322.5:c.509del MANE Select NP_000313.2:p.Gly170ValfsTer?
Search 100 bp 5'
Search 100 bp 3'