Canonical Allele Identifier: CA122938

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 13173
• ClinVar RCV Id: RCV000084997 ; RCV000322776 ; RCV001074849 ; RCV001250286 ; RCV001250287 ; RCV001250288 ; RCV002508119
• dbSNP Id: rs61755798
• gnomAD v4: 6-42704564-G-C
• MyVariant Identifiers: chr6:g.42672302G>C (hg19) ; chr6:g.42704564G>C (hg38)
• PubMed: PMID:4142662 ; PMID:7519821 ; PMID:7862413 ; PMID:16885924 ; PMID:21071739 ; PMID:22863181 ; PMID:25082885

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704564G>C , CM000668.2:g.42704564G>C	GRCh38
NC_000006.11:g.42672302G>C , CM000668.1:g.42672302G>C	GRCh37
NC_000006.10:g.42780280G>C	NCBI36
NG_009176.1:g.23057C>G
NG_009176.2:g.23057C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.629C>G MANE Select	ENSP00000230381.5:p.Pro210Arg
ENST00000230381.6:c.629C>G	ENSP00000230381.5:p.Pro210Arg
NM_000322.4:c.629C>G	NP_000313.2:p.Pro210Arg
XR_427834.2:n.1284C>G
XR_926295.1:n.1466C>G
XR_427834.4:n.1334C>G
XR_926295.3:n.1516C>G
NM_000322.5:c.629C>G MANE Select	NP_000313.2:p.Pro210Arg