Canonical Allele Identifier: CA913189984

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 599068
• ClinVar RCV Id: RCV000735660
• dbSNP Id: rs1562434117

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722021_42722022del , CM000668.2:g.42722021_42722022del	GRCh38
NC_000006.11:g.42689759_42689760del , CM000668.1:g.42689759_42689760del	GRCh37
NC_000006.10:g.42797737_42797738del	NCBI36
NG_009176.1:g.5602_5603del
NG_009176.2:g.5602_5603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.316_317del MANE Select	ENSP00000230381.5:p.Val106SerfsTer?
ENST00000230381.6:c.316_317del	ENSP00000230381.5:p.Val106SerfsTer?
NM_000322.4:c.316_317del	NP_000313.2:p.Val106SerfsTer?
XR_427834.2:n.971_972del
XR_926295.1:n.971_972del
XR_427834.4:n.1021_1022del
XR_926295.3:n.1021_1022del
NM_000322.5:c.316_317del MANE Select	NP_000313.2:p.Val106SerfsTer?