Canonical Allele Identifier: CA824838048
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2901947
ClinVar RCV Id: RCV003756905
dbSNP Id: rs1369163850
gnomAD v3: 6-42704617-A-AG
gnomAD v4: 6-42704617-A-AG
MyVariant Identifiers: chr6:g.42672355_42672356insG (hg19) chr6:g.42704617_42704618insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704620dup , CM000668.2:g.42704620dup GRCh38
NC_000006.11:g.42672358dup , CM000668.1:g.42672358dup GRCh37
NC_000006.10:g.42780336dup NCBI36
NG_009176.1:g.23003dup
NG_009176.2:g.23003dup

Transcript Alleles

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