Canonical Allele Identifier: CA226333
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98722
dbSNP Id: rs61755767
gnomAD v2: 6-42689979-T-C
gnomAD v3: 6-42722241-T-C
gnomAD v4: 6-42722241-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722241T>C , CM000668.2:g.42722241T>C GRCh38
NC_000006.11:g.42689979T>C , CM000668.1:g.42689979T>C GRCh37
NC_000006.10:g.42797957T>C NCBI36
NG_009176.1:g.5380A>G
NG_009176.2:g.5380A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.94A>G MANE Select ENSP00000230381.5:p.Ile32Val
ENST00000230381.6:c.94A>G ENSP00000230381.5:p.Ile32Val
NM_000322.4:c.94A>G NP_000313.2:p.Ile32Val
XR_427834.2:n.749A>G
XR_926295.1:n.749A>G
XR_427834.4:n.799A>G
XR_926295.3:n.799A>G
NM_000322.5:c.94A>G MANE Select NP_000313.2:p.Ile32Val