Canonical Allele Identifier: CA1624186826
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721515C= , CM000668.2:g.42721515C= GRCh38
NC_000006.11:g.42689253C= , CM000668.1:g.42689253C= GRCh37
NC_000006.10:g.42797231C= NCBI36
NG_009176.1:g.6106G=
NG_009176.2:g.6106G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+239G= MANE Select ENSP00000230381.5:n.581+239G=
ENST00000230381.6:c.581+239G= ENSP00000230381.5:n.581+239G=
NM_000322.4:c.581+239G= NP_000313.2:n.581+239G=
XR_427834.2:n.1236+239G=
XR_926295.1:n.1236+239G=
XR_427834.4:n.1286+239G=
XR_926295.3:n.1286+239G=
NM_000322.5:c.581+239G= MANE Select NP_000313.2:n.581+239G=