Canonical Allele Identifier: CA364134976
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 865855
ClinVar RCV Id: RCV001073397 RCV001530374
dbSNP Id: rs1458793437
gnomAD v2: 6-42672182-C-A
gnomAD v4: 6-42704444-C-A
MyVariant Identifiers: chr6:g.42672182C>A (hg19) chr6:g.42704444C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704444C>A , CM000668.2:g.42704444C>A GRCh38
NC_000006.11:g.42672182C>A , CM000668.1:g.42672182C>A GRCh37
NC_000006.10:g.42780160C>A NCBI36
NG_009176.1:g.23177G>T
NG_009176.2:g.23177G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.749G>T MANE Select ENSP00000230381.5:p.Cys250Phe
ENST00000230381.6:c.749G>T ENSP00000230381.5:p.Cys250Phe
NM_000322.4:c.749G>T NP_000313.2:p.Cys250Phe
XR_427834.2:n.1404G>T
XR_427834.4:n.1454G>T
XR_926295.3:n.1636G>T
NM_000322.5:c.749G>T MANE Select NP_000313.2:p.Cys250Phe
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