Canonical Allele Identifier: CA3808636
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356778
ClinVar RCV Id: RCV000295006 RCV000309085 RCV000349955 RCV000363735 RCV000406712 RCV000406713 RCV002058610 RCV003888843
dbSNP Id: rs200009675
ExAC: 6:42689761 G / A
gnomAD v2: 6-42689761-G-A
gnomAD v3: 6-42722023-G-A
gnomAD v4: 6-42722023-G-A
MyVariant Identifiers: chr6:g.42689761G>A (hg19) chr6:g.42722023G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722023G>A , CM000668.2:g.42722023G>A GRCh38
NC_000006.11:g.42689761G>A , CM000668.1:g.42689761G>A GRCh37
NC_000006.10:g.42797739G>A NCBI36
NG_009176.1:g.5598C>T
NG_009176.2:g.5598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.312C>T MANE Select ENSP00000230381.5:p.Ile104=
ENST00000230381.6:c.312C>T ENSP00000230381.5:p.Ile104=
NM_000322.4:c.312C>T NP_000313.2:p.Ile104=
XR_427834.2:n.967C>T
XR_926295.1:n.967C>T
XR_427834.4:n.1017C>T
XR_926295.3:n.1017C>T
NM_000322.5:c.312C>T MANE Select NP_000313.2:p.Ile104=
Search 100 bp 5'
Search 100 bp 3'