Canonical Allele Identifier: CA2499218286

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 1175244
• ClinVar RCV Id: RCV001530281
• dbSNP Id: rs2152010970

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721950_42721953dup , CM000668.2:g.42721950_42721953dup	GRCh38
NC_000006.11:g.42689688_42689691dup , CM000668.1:g.42689688_42689691dup	GRCh37
NC_000006.10:g.42797666_42797669dup	NCBI36
NG_009176.1:g.5668_5671dup
NG_009176.2:g.5668_5671dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.382_385dup MANE Select	ENSP00000230381.5:p.Thr129LysfsTer?
ENST00000230381.6:c.382_385dup	ENSP00000230381.5:p.Thr129LysfsTer?
NM_000322.4:c.382_385dup	NP_000313.2:p.Thr129LysfsTer?
XR_427834.2:n.1037_1040dup
XR_926295.1:n.1037_1040dup
XR_427834.4:n.1087_1090dup
XR_926295.3:n.1087_1090dup
NM_000322.5:c.382_385dup MANE Select	NP_000313.2:p.Thr129LysfsTer?