Canonical Allele Identifier: CA3808575
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1590747
ClinVar RCV Id: RCV002103787
dbSNP Id: rs751001788
ExAC: 6:42672362 C / CA
gnomAD v2: 6-42672362-C-CA
gnomAD v3: 6-42704624-C-CA
gnomAD v4: 6-42704624-C-CA
MyVariant Identifiers: chr6:g.42672362_42672363insA (hg19) chr6:g.42704624_42704625insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704625dup , CM000668.2:g.42704625dup GRCh38
NC_000006.11:g.42672363dup , CM000668.1:g.42672363dup GRCh37
NC_000006.10:g.42780341dup NCBI36
NG_009176.1:g.22996dup
NG_009176.2:g.22996dup

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.582-14dup MANE Select ENSP00000230381.5:n.582-14dup
ENST00000230381.6:c.582-14dup ENSP00000230381.5:n.582-14dup
NM_000322.4:c.582-14dup NP_000313.2:n.582-14dup
XR_427834.2:n.1237-14dup
XR_926295.1:n.1419-14dup
XR_427834.4:n.1287-14dup
XR_926295.3:n.1469-14dup
NM_000322.5:c.582-14dup MANE Select NP_000313.2:n.582-14dup
Search 100 bp 5'
Search 100 bp 3'