Canonical Allele Identifier: CA226335
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98723
ClinVar RCV Id: RCV000085037 RCV001857418
dbSNP Id: rs61755768
MyVariant Identifiers: chr6:g.42689976_42689977insG (hg19) chr6:g.42722238_42722239insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722239dup , CM000668.2:g.42722239dup GRCh38
NC_000006.11:g.42689977dup , CM000668.1:g.42689977dup GRCh37
NC_000006.10:g.42797955dup NCBI36
NG_009176.1:g.5382dup
NG_009176.2:g.5382dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.96dup MANE Select ENSP00000230381.5:p.Ile33HisfsTer12
ENST00000230381.6:c.96dup ENSP00000230381.5:p.Ile33HisfsTer12
NM_000322.4:c.96dup NP_000313.2:p.Ile33HisfsTer12
XR_427834.2:n.751dup
XR_926295.1:n.751dup
XR_427834.4:n.801dup
XR_926295.3:n.801dup
NM_000322.5:c.96dup MANE Select NP_000313.2:p.Ile33HisfsTer12
Search 100 bp 5'
Search 100 bp 3'