Canonical Allele Identifier: CA226316
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98711
ClinVar RCV Id: RCV000085024 RCV001074280 RCV001043298
dbSNP Id: rs61755766
ExAC: 6:42689993 G / A
gnomAD v2: 6-42689993-G-A
gnomAD v3: 6-42722255-G-A
gnomAD v4: 6-42722255-G-A
MyVariant Identifiers: chr6:g.42689993G>A (hg19) chr6:g.42722255G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722255G>A , CM000668.2:g.42722255G>A GRCh38
NC_000006.11:g.42689993G>A , CM000668.1:g.42689993G>A GRCh37
NC_000006.10:g.42797971G>A NCBI36
NG_009176.1:g.5366C>T
NG_009176.2:g.5366C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.80C>T MANE Select ENSP00000230381.5:p.Ser27Phe
ENST00000230381.6:c.80C>T ENSP00000230381.5:p.Ser27Phe
NM_000322.4:c.80C>T NP_000313.2:p.Ser27Phe
XR_427834.2:n.735C>T
XR_926295.1:n.735C>T
XR_427834.4:n.785C>T
XR_926295.3:n.785C>T
NM_000322.5:c.80C>T MANE Select NP_000313.2:p.Ser27Phe
Search 100 bp 5'
Search 100 bp 3'