Canonical Allele Identifier: CA226230
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98664
ClinVar RCV Id: RCV000084967 RCV001078785 RCV001165228 RCV001165230 RCV001165229 RCV001165231 RCV001158514 RCV001165232 RCV003888454
dbSNP Id: rs61754402
ExAC: 6:42690036 G / A
gnomAD v2: 6-42690036-G-A
gnomAD v3: 6-42722298-G-A
gnomAD v4: 6-42722298-G-A
MyVariant Identifiers: chr6:g.42690036G>A (hg19) chr6:g.42722298G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722298G>A , CM000668.2:g.42722298G>A GRCh38
NC_000006.11:g.42690036G>A , CM000668.1:g.42690036G>A GRCh37
NC_000006.10:g.42798014G>A NCBI36
NG_009176.1:g.5323C>T
NG_009176.2:g.5323C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.37C>T MANE Select ENSP00000230381.5:p.Arg13Trp
ENST00000230381.6:c.37C>T ENSP00000230381.5:p.Arg13Trp
NM_000322.4:c.37C>T NP_000313.2:p.Arg13Trp
XR_427834.2:n.692C>T
XR_926295.1:n.692C>T
XR_427834.4:n.742C>T
XR_926295.3:n.742C>T
NM_000322.5:c.37C>T MANE Select NP_000313.2:p.Arg13Trp
Search 100 bp 5'
Search 100 bp 3'