Canonical Allele Identifier: CA3808669
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1063671
ClinVar RCV Id: RCV001373528
dbSNP Id: rs779326874
ExAC: 6:42690004 C / T
gnomAD v2: 6-42690004-C-T
gnomAD v4: 6-42722266-C-T
MyVariant Identifiers: chr6:g.42690004C>T (hg19) chr6:g.42722266C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722266C>T , CM000668.2:g.42722266C>T GRCh38
NC_000006.11:g.42690004C>T , CM000668.1:g.42690004C>T GRCh37
NC_000006.10:g.42797982C>T NCBI36
NG_009176.1:g.5355G>A
NG_009176.2:g.5355G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.69G>A MANE Select ENSP00000230381.5:p.Met23Ile
ENST00000230381.6:c.69G>A ENSP00000230381.5:p.Met23Ile
NM_000322.4:c.69G>A NP_000313.2:p.Met23Ile
XR_427834.2:n.724G>A
XR_926295.1:n.724G>A
XR_427834.4:n.774G>A
XR_926295.3:n.774G>A
NM_000322.5:c.69G>A MANE Select NP_000313.2:p.Met23Ile
Search 100 bp 5'
Search 100 bp 3'