Canonical Allele Identifier: CA1624187251
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722417G= , CM000668.2:g.42722417G= GRCh38
NC_000006.11:g.42690155G= , CM000668.1:g.42690155G= GRCh37
NC_000006.10:g.42798133G= NCBI36
NG_009176.1:g.5204C=
NG_009176.2:g.5204C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-83C= MANE Select ENSP00000230381.5:n.-83C=
ENST00000230381.6:c.-83C= ENSP00000230381.5:n.-83C=
NM_000322.4:c.-83C= NP_000313.2:n.-83C=
XR_427834.2:n.573C=
XR_926295.1:n.573C=
XR_427834.4:n.623C=
XR_926295.3:n.623C=
NM_000322.5:c.-83C= MANE Select NP_000313.2:n.-83C=