Canonical Allele Identifier: CA10623964
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356784
ClinVar RCV Id: RCV000298308 RCV000313674 RCV000334676 RCV000337963 RCV000391377 RCV000391354
dbSNP Id: rs886061407
gnomAD v2: 6-42690238-C-T
gnomAD v3: 6-42722500-C-T
gnomAD v4: 6-42722500-C-T
MyVariant Identifiers: chr6:g.42690238C>T (hg19) chr6:g.42722500C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722500C>T , CM000668.2:g.42722500C>T GRCh38
NC_000006.11:g.42690238C>T , CM000668.1:g.42690238C>T GRCh37
NC_000006.10:g.42798216C>T NCBI36
NG_009176.1:g.5121G>A
NG_009176.2:g.5121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-166G>A MANE Select ENSP00000230381.5:n.-166G>A
ENST00000230381.6:c.-166G>A ENSP00000230381.5:n.-166G>A
NM_000322.4:c.-166G>A NP_000313.2:n.-166G>A
XR_427834.2:n.490G>A
XR_926295.1:n.490G>A
XR_427834.4:n.540G>A
XR_926295.3:n.540G>A
NM_000322.5:c.-166G>A MANE Select NP_000313.2:n.-166G>A
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