Canonical Allele Identifier: CA364137499
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175282
ClinVar RCV Id: RCV001530344
dbSNP Id: rs199572514

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721871G>C , CM000668.2:g.42721871G>C GRCh38
NC_000006.11:g.42689609G>C , CM000668.1:g.42689609G>C GRCh37
NC_000006.10:g.42797587G>C NCBI36
NG_009176.1:g.5750C>G
NG_009176.2:g.5750C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.464C>G MANE Select ENSP00000230381.5:p.Thr155Ser
ENST00000230381.6:c.464C>G ENSP00000230381.5:p.Thr155Ser
NM_000322.4:c.464C>G NP_000313.2:p.Thr155Ser
XR_427834.2:n.1119C>G
XR_926295.1:n.1119C>G
XR_427834.4:n.1169C>G
XR_926295.3:n.1169C>G
NM_000322.5:c.464C>G MANE Select NP_000313.2:p.Thr155Ser