Canonical Allele Identifier: CA364137640
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 916281
ClinVar RCV Id: RCV001171860 RCV001873586
dbSNP Id: rs1761910745
COSMIC: COSM5357124
MyVariant Identifiers: chr6:g.42689672A>G (hg19) chr6:g.42721934A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721934A>G , CM000668.2:g.42721934A>G GRCh38
NC_000006.11:g.42689672A>G , CM000668.1:g.42689672A>G GRCh37
NC_000006.10:g.42797650A>G NCBI36
NG_009176.1:g.5687T>C
NG_009176.2:g.5687T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.401T>C MANE Select ENSP00000230381.5:p.Leu134Pro
ENST00000230381.6:c.401T>C ENSP00000230381.5:p.Leu134Pro
NM_000322.4:c.401T>C NP_000313.2:p.Leu134Pro
XR_427834.2:n.1056T>C
XR_926295.1:n.1056T>C
XR_427834.4:n.1106T>C
XR_926295.3:n.1106T>C
NM_000322.5:c.401T>C MANE Select NP_000313.2:p.Leu134Pro
Search 100 bp 5'
Search 100 bp 3'