Canonical Allele Identifier: CA1624187207
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722340C= , CM000668.2:g.42722340C= GRCh38
NC_000006.11:g.42690078C= , CM000668.1:g.42690078C= GRCh37
NC_000006.10:g.42798056C= NCBI36
NG_009176.1:g.5281G=
NG_009176.2:g.5281G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-6G= MANE Select ENSP00000230381.5:n.-6G=
ENST00000230381.6:c.-6G= ENSP00000230381.5:n.-6G=
NM_000322.4:c.-6G= NP_000313.2:n.-6G=
XR_427834.2:n.650G=
XR_926295.1:n.650G=
XR_427834.4:n.700G=
XR_926295.3:n.700G=
NM_000322.5:c.-6G= MANE Select NP_000313.2:n.-6G=