Canonical Allele Identifier: CA3808674
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 910955
ClinVar RCV Id: RCV001163149 RCV001163151 RCV001163150 RCV001165225 RCV001165226 RCV001165227 RCV001530272 RCV002559561 RCV003890331
dbSNP Id: rs555112175
ExAC: 6:42690029 T / C
gnomAD v2: 6-42690029-T-C
gnomAD v3: 6-42722291-T-C
gnomAD v4: 6-42722291-T-C
MyVariant Identifiers: chr6:g.42690029T>C (hg19) chr6:g.42722291T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722291T>C , CM000668.2:g.42722291T>C GRCh38
NC_000006.11:g.42690029T>C , CM000668.1:g.42690029T>C GRCh37
NC_000006.10:g.42798007T>C NCBI36
NG_009176.1:g.5330A>G
NG_009176.2:g.5330A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.44A>G MANE Select ENSP00000230381.5:p.Lys15Arg
ENST00000230381.6:c.44A>G ENSP00000230381.5:p.Lys15Arg
NM_000322.4:c.44A>G NP_000313.2:p.Lys15Arg
XR_427834.2:n.699A>G
XR_926295.1:n.699A>G
XR_427834.4:n.749A>G
XR_926295.3:n.749A>G
NM_000322.5:c.44A>G MANE Select NP_000313.2:p.Lys15Arg
Search 100 bp 5'
Search 100 bp 3'