Canonical Allele Identifier: CA2580614878
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420271
ClinVar RCV Id: RCV001914151
dbSNP Id: rs2152011112
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722246_42722249del , CM000668.2:g.42722246_42722249del GRCh38
NC_000006.11:g.42689984_42689987del , CM000668.1:g.42689984_42689987del GRCh37
NC_000006.10:g.42797962_42797965del NCBI36
NG_009176.1:g.5376_5379del
NG_009176.2:g.5376_5379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.90_93del MANE Select ENSP00000230381.5:p.Gly31SerfsTer6
ENST00000230381.6:c.90_93del ENSP00000230381.5:p.Gly31SerfsTer6
NM_000322.4:c.90_93del NP_000313.2:p.Gly31SerfsTer6
XR_427834.2:n.745_748del
XR_926295.1:n.745_748del
XR_427834.4:n.795_798del
XR_926295.3:n.795_798del
NM_000322.5:c.90_93del MANE Select NP_000313.2:p.Gly31SerfsTer6
Search 100 bp 5'
Search 100 bp 3'