Canonical Allele Identifier: CA2513515649

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722357T>A , CM000668.2:g.42722357T>A	GRCh38
NC_000006.11:g.42690095T>A , CM000668.1:g.42690095T>A	GRCh37
NC_000006.10:g.42798073T>A	NCBI36
NG_009176.1:g.5264A>T
NG_009176.2:g.5264A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-23A>T MANE Select	ENSP00000230381.5:n.-23A>T
ENST00000230381.6:c.-23A>T	ENSP00000230381.5:n.-23A>T
NM_000322.4:c.-23A>T	NP_000313.2:n.-23A>T
XR_427834.2:n.633A>T
XR_926295.1:n.633A>T
XR_427834.4:n.683A>T
XR_926295.3:n.683A>T
NM_000322.5:c.-23A>T MANE Select	NP_000313.2:n.-23A>T