Canonical Allele Identifier: CA364134990
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1932627
ClinVar RCV Id: RCV002622666

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704447C>T , CM000668.2:g.42704447C>T GRCh38
NC_000006.11:g.42672185C>T , CM000668.1:g.42672185C>T GRCh37
NC_000006.10:g.42780163C>T NCBI36
NG_009176.1:g.23174G>A
NG_009176.2:g.23174G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.746G>A MANE Select ENSP00000230381.5:p.Gly249Asp
ENST00000230381.6:c.746G>A ENSP00000230381.5:p.Gly249Asp
NM_000322.4:c.746G>A NP_000313.2:p.Gly249Asp
XR_427834.2:n.1401G>A
XR_427834.4:n.1451G>A
XR_926295.3:n.1633G>A
NM_000322.5:c.746G>A MANE Select NP_000313.2:p.Gly249Asp