Canonical Allele Identifier: CA10622106
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356781
ClinVar RCV Id: RCV000261397 RCV000301502 RCV000304985 RCV000341174 RCV000356274 RCV000405534
dbSNP Id: rs886061405
gnomAD v2: 6-42690131-C-T
gnomAD v3: 6-42722393-C-T
gnomAD v4: 6-42722393-C-T
MyVariant Identifiers: chr6:g.42690131C>T (hg19) chr6:g.42722393C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722393C>T , CM000668.2:g.42722393C>T GRCh38
NC_000006.11:g.42690131C>T , CM000668.1:g.42690131C>T GRCh37
NC_000006.10:g.42798109C>T NCBI36
NG_009176.1:g.5228G>A
NG_009176.2:g.5228G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-59G>A MANE Select ENSP00000230381.5:n.-59G>A
ENST00000230381.6:c.-59G>A ENSP00000230381.5:n.-59G>A
NM_000322.4:c.-59G>A NP_000313.2:n.-59G>A
XR_427834.2:n.597G>A
XR_926295.1:n.597G>A
XR_427834.4:n.647G>A
XR_926295.3:n.647G>A
NM_000322.5:c.-59G>A MANE Select NP_000313.2:n.-59G>A
Search 100 bp 5'
Search 100 bp 3'