Canonical Allele Identifier: CA364137534
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 965234
ClinVar RCV Id: RCV001239630
dbSNP Id: rs1761908800
MyVariant Identifiers: chr6:g.42689623A>T (hg19) chr6:g.42721885A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721885A>T , CM000668.2:g.42721885A>T GRCh38
NC_000006.11:g.42689623A>T , CM000668.1:g.42689623A>T GRCh37
NC_000006.10:g.42797601A>T NCBI36
NG_009176.1:g.5736T>A
NG_009176.2:g.5736T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.450T>A MANE Select ENSP00000230381.5:p.Cys150Ter
ENST00000230381.6:c.450T>A ENSP00000230381.5:p.Cys150Ter
NM_000322.4:c.450T>A NP_000313.2:p.Cys150Ter
XR_427834.2:n.1105T>A
XR_926295.1:n.1105T>A
XR_427834.4:n.1155T>A
XR_926295.3:n.1155T>A
NM_000322.5:c.450T>A MANE Select NP_000313.2:p.Cys150Ter
Search 100 bp 5'
Search 100 bp 3'