Canonical Allele Identifier: CA2770821336

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722335G>T , CM000668.2:g.42722335G>T	GRCh38
NC_000006.11:g.42690073G>T , CM000668.1:g.42690073G>T	GRCh37
NC_000006.10:g.42798051G>T	NCBI36
NG_009176.1:g.5286C>A
NG_009176.2:g.5286C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-1C>A MANE Select	ENSP00000230381.5:n.-1C>A
ENST00000230381.6:c.-1C>A	ENSP00000230381.5:n.-1C>A
NM_000322.4:c.-1C>A	NP_000313.2:n.-1C>A
XR_427834.2:n.655C>A
XR_926295.1:n.655C>A
XR_427834.4:n.705C>A
XR_926295.3:n.705C>A
NM_000322.5:c.-1C>A MANE Select	NP_000313.2:n.-1C>A