Canonical Allele Identifier: CA3808622
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1364193
ClinVar RCV Id: RCV001905280
dbSNP Id: rs768473101
ExAC: 6:42689676 C / T
gnomAD v2: 6-42689676-C-T
MyVariant Identifiers: chr6:g.42689676C>T (hg19) chr6:g.42721938C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721938C>T , CM000668.2:g.42721938C>T GRCh38
NC_000006.11:g.42689676C>T , CM000668.1:g.42689676C>T GRCh37
NC_000006.10:g.42797654C>T NCBI36
NG_009176.1:g.5683G>A
NG_009176.2:g.5683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.397G>A MANE Select ENSP00000230381.5:p.Gly133Arg
ENST00000230381.6:c.397G>A ENSP00000230381.5:p.Gly133Arg
NM_000322.4:c.397G>A NP_000313.2:p.Gly133Arg
XR_427834.2:n.1052G>A
XR_926295.1:n.1052G>A
XR_427834.4:n.1102G>A
XR_926295.3:n.1102G>A
NM_000322.5:c.397G>A MANE Select NP_000313.2:p.Gly133Arg
Search 100 bp 5'
Search 100 bp 3'