Canonical Allele Identifier: CA2578619237

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704544_42704552dup , CM000668.2:g.42704544_42704552dup	GRCh38
NC_000006.11:g.42672282_42672290dup , CM000668.1:g.42672282_42672290dup	GRCh37
NC_000006.10:g.42780260_42780268dup	NCBI36
NG_009176.1:g.23071_23079dup
NG_009176.2:g.23071_23079dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000230381.7:c.643_651dup MANE Select	ENSP00000230381.5:p.Ser217_Ser218insAsnPr...
ENST00000230381.6:c.643_651dup	ENSP00000230381.5:p.Ser217_Ser218insAsnPr...
NM_000322.4:c.643_651dup	NP_000313.2:p.Ser217_Ser218insAsnProSer
XR_427834.2:n.1298_1306dup
XR_926295.1:n.1480_1488dup
XR_427834.4:n.1348_1356dup
XR_926295.3:n.1530_1538dup
NM_000322.5:c.643_651dup MANE Select	NP_000313.2:p.Ser217_Ser218insAsnProSer