Canonical Allele Identifier: CA450244462
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1673620
ClinVar RCV Id: RCV002204165
dbSNP Id: rs1170303882
gnomAD v2: 6-42689992-G-A
gnomAD v3: 6-42722254-G-A
gnomAD v4: 6-42722254-G-A
MyVariant Identifiers: chr6:g.42689992G>A (hg19) chr6:g.42722254G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722254G>A , CM000668.2:g.42722254G>A GRCh38
NC_000006.11:g.42689992G>A , CM000668.1:g.42689992G>A GRCh37
NC_000006.10:g.42797970G>A NCBI36
NG_009176.1:g.5367C>T
NG_009176.2:g.5367C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.81C>T MANE Select ENSP00000230381.5:p.Ser27=
ENST00000230381.6:c.81C>T ENSP00000230381.5:p.Ser27=
NM_000322.4:c.81C>T NP_000313.2:p.Ser27=
XR_427834.2:n.736C>T
XR_926295.1:n.736C>T
XR_427834.4:n.786C>T
XR_926295.3:n.786C>T
NM_000322.5:c.81C>T MANE Select NP_000313.2:p.Ser27=
Search 100 bp 5'
Search 100 bp 3'