Canonical Allele Identifier: CA1624187222
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722364C= , CM000668.2:g.42722364C= GRCh38
NC_000006.11:g.42690102C= , CM000668.1:g.42690102C= GRCh37
NC_000006.10:g.42798080C= NCBI36
NG_009176.1:g.5257G=
NG_009176.2:g.5257G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-30G= MANE Select ENSP00000230381.5:n.-30G=
ENST00000230381.6:c.-30G= ENSP00000230381.5:n.-30G=
NM_000322.4:c.-30G= NP_000313.2:n.-30G=
XR_427834.2:n.626G=
XR_926295.1:n.626G=
XR_427834.4:n.676G=
XR_926295.3:n.676G=
NM_000322.5:c.-30G= MANE Select NP_000313.2:n.-30G=