Canonical Allele Identifier: CA364137665
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 942510
ClinVar RCV Id: RCV001212513 RCV001250303 RCV001530282
dbSNP Id: rs1761911206
MyVariant Identifiers: chr6:g.42689684A>G (hg19) chr6:g.42721946A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721946A>G , CM000668.2:g.42721946A>G GRCh38
NC_000006.11:g.42689684A>G , CM000668.1:g.42689684A>G GRCh37
NC_000006.10:g.42797662A>G NCBI36
NG_009176.1:g.5675T>C
NG_009176.2:g.5675T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.389T>C MANE Select ENSP00000230381.5:p.Leu130Pro
ENST00000230381.6:c.389T>C ENSP00000230381.5:p.Leu130Pro
NM_000322.4:c.389T>C NP_000313.2:p.Leu130Pro
XR_427834.2:n.1044T>C
XR_926295.1:n.1044T>C
XR_427834.4:n.1094T>C
XR_926295.3:n.1094T>C
NM_000322.5:c.389T>C MANE Select NP_000313.2:p.Leu130Pro
Search 100 bp 5'
Search 100 bp 3'