Canonical Allele Identifier: CA364135451
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 437967
dbSNP Id: rs1554269053

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704529A>G , CM000668.2:g.42704529A>G GRCh38
NC_000006.11:g.42672267A>G , CM000668.1:g.42672267A>G GRCh37
NC_000006.10:g.42780245A>G NCBI36
NG_009176.1:g.23092T>C
NG_009176.2:g.23092T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.664T>C MANE Select ENSP00000230381.5:p.Cys222Arg
ENST00000230381.6:c.664T>C ENSP00000230381.5:p.Cys222Arg
NM_000322.4:c.664T>C NP_000313.2:p.Cys222Arg
XR_427834.2:n.1319T>C
XR_926295.1:n.1501T>C
XR_427834.4:n.1369T>C
XR_926295.3:n.1551T>C
NM_000322.5:c.664T>C MANE Select NP_000313.2:p.Cys222Arg