Canonical Allele Identifier: CA2499218261
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175216
ClinVar RCV Id: RCV001530225 RCV001873750
dbSNP Id: rs2152010904
gnomAD v4: 6-42721821-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721825dup , CM000668.2:g.42721825dup GRCh38
NC_000006.11:g.42689563dup , CM000668.1:g.42689563dup GRCh37
NC_000006.10:g.42797541dup NCBI36
NG_009176.1:g.5799dup
NG_009176.2:g.5799dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.513dup MANE Select ENSP00000230381.5:p.Arg172SerfsTer5
ENST00000230381.6:c.513dup ENSP00000230381.5:p.Arg172SerfsTer5
NM_000322.4:c.513dup NP_000313.2:p.Arg172SerfsTer5
XR_427834.2:n.1168dup
XR_926295.1:n.1168dup
XR_427834.4:n.1218dup
XR_926295.3:n.1218dup
NM_000322.5:c.513dup MANE Select NP_000313.2:p.Arg172SerfsTer5
Search 100 bp 5'
Search 100 bp 3'