Canonical Allele Identifier: CA10623961
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356780
ClinVar RCV Id: RCV000261739 RCV000277137 RCV000317027 RCV000332126 RCV000371697 RCV000386639 RCV002524479
dbSNP Id: rs886061404
MyVariant Identifiers: chr6:g.42689981C>A (hg19) chr6:g.42722243C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722243C>A , CM000668.2:g.42722243C>A GRCh38
NC_000006.11:g.42689981C>A , CM000668.1:g.42689981C>A GRCh37
NC_000006.10:g.42797959C>A NCBI36
NG_009176.1:g.5378G>T
NG_009176.2:g.5378G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.92G>T MANE Select ENSP00000230381.5:p.Gly31Val
ENST00000230381.6:c.92G>T ENSP00000230381.5:p.Gly31Val
NM_000322.4:c.92G>T NP_000313.2:p.Gly31Val
XR_427834.2:n.747G>T
XR_926295.1:n.747G>T
XR_427834.4:n.797G>T
XR_926295.3:n.797G>T
NM_000322.5:c.92G>T MANE Select NP_000313.2:p.Gly31Val
Search 100 bp 5'
Search 100 bp 3'