Canonical Allele Identifier: CA915944255

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 636073
• ClinVar RCV Id: RCV000787660 ; RCV001530218
• dbSNP Id: rs1582780842

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722060dup , CM000668.2:g.42722060dup	GRCh38
NC_000006.11:g.42689798dup , CM000668.1:g.42689798dup	GRCh37
NC_000006.10:g.42797776dup	NCBI36
NG_009176.1:g.5562dup
NG_009176.2:g.5562dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.276dup MANE Select	ENSP00000230381.5:p.Arg93GlnfsTer?
ENST00000230381.6:c.276dup	ENSP00000230381.5:p.Arg93GlnfsTer?
NM_000322.4:c.276dup	NP_000313.2:p.Arg93GlnfsTer?
XR_427834.2:n.931dup
XR_926295.1:n.931dup
XR_427834.4:n.981dup
XR_926295.3:n.981dup
NM_000322.5:c.276dup MANE Select	NP_000313.2:p.Arg93GlnfsTer?