Canonical Allele Identifier: CA10626755
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356751
ClinVar RCV Id: RCV000285696 RCV000291732 RCV000345373 RCV000346734 RCV000381474 RCV000402805
dbSNP Id: rs115451690
gnomAD v2: 6-42664720-C-T
gnomAD v3: 6-42696982-C-T
gnomAD v4: 6-42696982-C-T
MyVariant Identifiers: chr6:g.42664720C>T (hg19) chr6:g.42696982C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42696982C>T , CM000668.2:g.42696982C>T GRCh38
NC_000006.11:g.42664720C>T , CM000668.1:g.42664720C>T GRCh37
NC_000006.10:g.42772698C>T NCBI36
NG_009176.1:g.30639G>A
NG_009176.2:g.30639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.*1313G>A MANE Select ENSP00000230381.5:n.*1313G>A
ENST00000230381.6:c.*1313G>A ENSP00000230381.5:n.*1313G>A
NM_000322.4:c.*1313G>A NP_000313.2:n.*1313G>A
XR_926295.3:n.3241G>A
NM_000322.5:c.*1313G>A MANE Select NP_000313.2:n.*1313G>A
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