Canonical Allele Identifier: CA10623932
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356763
ClinVar RCV Id: RCV000262315 RCV000266583 RCV000297565 RCV000303507 RCV000357058 RCV000358325
dbSNP Id: rs573416213
gnomAD v2: 6-42665441-T-A
gnomAD v3: 6-42697703-T-A
gnomAD v4: 6-42697703-T-A
MyVariant Identifiers: chr6:g.42665441T>A (hg19) chr6:g.42697703T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42697703T>A , CM000668.2:g.42697703T>A GRCh38
NC_000006.11:g.42665441T>A , CM000668.1:g.42665441T>A GRCh37
NC_000006.10:g.42773419T>A NCBI36
NG_009176.1:g.29918A>T
NG_009176.2:g.29918A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.*592A>T MANE Select ENSP00000230381.5:n.*592A>T
ENST00000230381.6:c.*592A>T ENSP00000230381.5:n.*592A>T
NM_000322.4:c.*592A>T NP_000313.2:n.*592A>T
XR_926295.3:n.2520A>T
NM_000322.5:c.*592A>T MANE Select NP_000313.2:n.*592A>T
Search 100 bp 5'
Search 100 bp 3'