Canonical Allele Identifier: CA122944

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 13182
• ClinVar RCV Id: RCV000014070 ; RCV000084990 ; RCV002513034
• dbSNP Id: rs121918567
• ExAC: 6:42672347 C / A
• gnomAD v2: 6-42672347-C-A
• gnomAD v3: 6-42704609-C-A
• gnomAD v4: 6-42704609-C-A
• MyVariant Identifiers: chr6:g.42672347C>A (hg19) ; chr6:g.42704609C>A (hg38)
• PubMed: PMID:14557183

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704609C>A , CM000668.2:g.42704609C>A	GRCh38
NC_000006.11:g.42672347C>A , CM000668.1:g.42672347C>A	GRCh37
NC_000006.10:g.42780325C>A	NCBI36
NG_009176.1:g.23012G>T
NG_009176.2:g.23012G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230381.7:c.584G>T MANE Select	ENSP00000230381.5:p.Arg195Leu
ENST00000230381.6:c.584G>T	ENSP00000230381.5:p.Arg195Leu
NM_000322.4:c.584G>T	NP_000313.2:p.Arg195Leu
XR_427834.2:n.1239G>T
XR_926295.1:n.1421G>T
XR_427834.4:n.1289G>T
XR_926295.3:n.1471G>T
NM_000322.5:c.584G>T MANE Select	NP_000313.2:p.Arg195Leu