Canonical Allele Identifier: CA364134948
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175300
ClinVar RCV Id: RCV001530377
dbSNP Id: rs1203189231
MyVariant Identifiers: chr6:g.42672177C>G (hg19) chr6:g.42704439C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704439C>G , CM000668.2:g.42704439C>G GRCh38
NC_000006.11:g.42672177C>G , CM000668.1:g.42672177C>G GRCh37
NC_000006.10:g.42780155C>G NCBI36
NG_009176.1:g.23182G>C
NG_009176.2:g.23182G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.754G>C MANE Select ENSP00000230381.5:p.Ala252Pro
ENST00000230381.6:c.754G>C ENSP00000230381.5:p.Ala252Pro
NM_000322.4:c.754G>C NP_000313.2:p.Ala252Pro
XR_427834.2:n.1409G>C
XR_427834.4:n.1459G>C
XR_926295.3:n.1641G>C
NM_000322.5:c.754G>C MANE Select NP_000313.2:p.Ala252Pro
Search 100 bp 5'
Search 100 bp 3'