Canonical Allele Identifier: CA2499218284

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 1175279
• ClinVar RCV Id: RCV001530338
• dbSNP Id: rs2152010940

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721902_42721903del , CM000668.2:g.42721902_42721903del	GRCh38
NC_000006.11:g.42689640_42689641del , CM000668.1:g.42689640_42689641del	GRCh37
NC_000006.10:g.42797618_42797619del	NCBI36
NG_009176.1:g.5719_5720del
NG_009176.2:g.5719_5720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.433_434del MANE Select	ENSP00000230381.5:p.Asp145HisfsTer?
ENST00000230381.6:c.433_434del	ENSP00000230381.5:p.Asp145HisfsTer?
NM_000322.4:c.433_434del	NP_000313.2:p.Asp145HisfsTer?
XR_427834.2:n.1088_1089del
XR_926295.1:n.1088_1089del
XR_427834.4:n.1138_1139del
XR_926295.3:n.1138_1139del
NM_000322.5:c.433_434del MANE Select	NP_000313.2:p.Asp145HisfsTer?