Canonical Allele Identifier: CA293076
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 138908
ClinVar RCV Id: RCV000127758 RCV000289578 RCV000292322 RCV000348039 RCV000344526 RCV000408099 RCV000383991 RCV000767336
dbSNP Id: rs114062933
ExAC: 6:42690083 T / G
gnomAD v2: 6-42690083-T-G
gnomAD v3: 6-42722345-T-G
gnomAD v4: 6-42722345-T-G
MyVariant Identifiers: chr6:g.42690083T>G (hg19) chr6:g.42722345T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722345T>G , CM000668.2:g.42722345T>G GRCh38
NC_000006.11:g.42690083T>G , CM000668.1:g.42690083T>G GRCh37
NC_000006.10:g.42798061T>G NCBI36
NG_009176.1:g.5276A>C
NG_009176.2:g.5276A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-11A>C MANE Select ENSP00000230381.5:n.-11A>C
ENST00000230381.6:c.-11A>C ENSP00000230381.5:n.-11A>C
NM_000322.4:c.-11A>C NP_000313.2:n.-11A>C
XR_427834.2:n.645A>C
XR_926295.1:n.645A>C
XR_427834.4:n.695A>C
XR_926295.3:n.695A>C
NM_000322.5:c.-11A>C MANE Select NP_000313.2:n.-11A>C
Search 100 bp 5'
Search 100 bp 3'