Canonical Allele Identifier: CA2499218312
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175239
ClinVar RCV Id: RCV001530271
dbSNP Id: rs2152011148
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722294_42722295insAC , CM000668.2:g.42722294_42722295insAC GRCh38
NC_000006.11:g.42690032_42690033insAC , CM000668.1:g.42690032_42690033insAC GRCh37
NC_000006.10:g.42798010_42798011insAC NCBI36
NG_009176.1:g.5326_5327insGT
NG_009176.2:g.5326_5327insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.40_41insGT MANE Select ENSP00000230381.5:p.Val14GlyfsTer11
ENST00000230381.6:c.40_41insGT ENSP00000230381.5:p.Val14GlyfsTer11
NM_000322.4:c.40_41insGT NP_000313.2:p.Val14GlyfsTer11
XR_427834.2:n.695_696insGT
XR_926295.1:n.695_696insGT
XR_427834.4:n.745_746insGT
XR_926295.3:n.745_746insGT
NM_000322.5:c.40_41insGT MANE Select NP_000313.2:p.Val14GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'