Canonical Allele Identifier: CA364137994
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 861236
ClinVar RCV Id: RCV001067713
dbSNP Id: rs1761913693
MyVariant Identifiers: chr6:g.42689783C>T (hg19) chr6:g.42722045C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722045C>T , CM000668.2:g.42722045C>T GRCh38
NC_000006.11:g.42689783C>T , CM000668.1:g.42689783C>T GRCh37
NC_000006.10:g.42797761C>T NCBI36
NG_009176.1:g.5576G>A
NG_009176.2:g.5576G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.290G>A MANE Select ENSP00000230381.5:p.Trp97Ter
ENST00000230381.6:c.290G>A ENSP00000230381.5:p.Trp97Ter
NM_000322.4:c.290G>A NP_000313.2:p.Trp97Ter
XR_427834.2:n.945G>A
XR_926295.1:n.945G>A
XR_427834.4:n.995G>A
XR_926295.3:n.995G>A
NM_000322.5:c.290G>A MANE Select NP_000313.2:p.Trp97Ter
Search 100 bp 5'
Search 100 bp 3'