Canonical Allele Identifier: CA270015
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143070
dbSNP Id: rs527236098
gnomAD v4: 6-42721836-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721836C>T , CM000668.2:g.42721836C>T GRCh38
NC_000006.11:g.42689574C>T , CM000668.1:g.42689574C>T GRCh37
NC_000006.10:g.42797552C>T NCBI36
NG_009176.1:g.5785G>A
NG_009176.2:g.5785G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.499G>A MANE Select ENSP00000230381.5:p.Gly167Ser
ENST00000230381.6:c.499G>A ENSP00000230381.5:p.Gly167Ser
NM_000322.4:c.499G>A NP_000313.2:p.Gly167Ser
XR_427834.2:n.1154G>A
XR_926295.1:n.1154G>A
XR_427834.4:n.1204G>A
XR_926295.3:n.1204G>A
NM_000322.5:c.499G>A MANE Select NP_000313.2:p.Gly167Ser