Canonical Allele Identifier: CA1624187229
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722379A= , CM000668.2:g.42722379A= GRCh38
NC_000006.11:g.42690117A= , CM000668.1:g.42690117A= GRCh37
NC_000006.10:g.42798095A= NCBI36
NG_009176.1:g.5242T=
NG_009176.2:g.5242T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-45T= MANE Select ENSP00000230381.5:n.-45T=
ENST00000230381.6:c.-45T= ENSP00000230381.5:n.-45T=
NM_000322.4:c.-45T= NP_000313.2:n.-45T=
XR_427834.2:n.611T=
XR_926295.1:n.611T=
XR_427834.4:n.661T=
XR_926295.3:n.661T=
NM_000322.5:c.-45T= MANE Select NP_000313.2:n.-45T=