Canonical Allele Identifier: CA10626883
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356782
ClinVar RCV Id: RCV000276567 RCV000271145 RCV000297907 RCV000331779 RCV000371202 RCV000386247
dbSNP Id: rs144011444
gnomAD v2: 6-42690132-G-A
gnomAD v3: 6-42722394-G-A
gnomAD v4: 6-42722394-G-A
MyVariant Identifiers: chr6:g.42690132G>A (hg19) chr6:g.42722394G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722394G>A , CM000668.2:g.42722394G>A GRCh38
NC_000006.11:g.42690132G>A , CM000668.1:g.42690132G>A GRCh37
NC_000006.10:g.42798110G>A NCBI36
NG_009176.1:g.5227C>T
NG_009176.2:g.5227C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-60C>T MANE Select ENSP00000230381.5:n.-60C>T
ENST00000230381.6:c.-60C>T ENSP00000230381.5:n.-60C>T
NM_000322.4:c.-60C>T NP_000313.2:n.-60C>T
XR_427834.2:n.596C>T
XR_926295.1:n.596C>T
XR_427834.4:n.646C>T
XR_926295.3:n.646C>T
NM_000322.5:c.-60C>T MANE Select NP_000313.2:n.-60C>T
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