Canonical Allele Identifier: CA3808629
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285861
dbSNP Id: rs563581127
gnomAD v2: 6-42689706-G-A
gnomAD v3: 6-42721968-G-A
gnomAD v4: 6-42721968-G-A
COSMIC: COSM188503

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721968G>A , CM000668.2:g.42721968G>A GRCh38
NC_000006.11:g.42689706G>A , CM000668.1:g.42689706G>A GRCh37
NC_000006.10:g.42797684G>A NCBI36
NG_009176.1:g.5653C>T
NG_009176.2:g.5653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.367C>T MANE Select ENSP00000230381.5:p.Arg123Trp
ENST00000230381.6:c.367C>T ENSP00000230381.5:p.Arg123Trp
NM_000322.4:c.367C>T NP_000313.2:p.Arg123Trp
XR_427834.2:n.1022C>T
XR_926295.1:n.1022C>T
XR_427834.4:n.1072C>T
XR_926295.3:n.1072C>T
NM_000322.5:c.367C>T MANE Select NP_000313.2:p.Arg123Trp