Canonical Allele Identifier: CA1624187076
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722049G= , CM000668.2:g.42722049G= GRCh38
NC_000006.11:g.42689787G= , CM000668.1:g.42689787G= GRCh37
NC_000006.10:g.42797765G= NCBI36
NG_009176.1:g.5572C=
NG_009176.2:g.5572C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.286C= MANE Select ENSP00000230381.5:p.Pro96=
ENST00000230381.6:c.286C= ENSP00000230381.5:p.Pro96=
NM_000322.4:c.286C= NP_000313.2:p.Pro96=
XR_427834.2:n.941C=
XR_926295.1:n.941C=
XR_427834.4:n.991C=
XR_926295.3:n.991C=
NM_000322.5:c.286C= MANE Select NP_000313.2:p.Pro96=