Canonical Allele Identifier: CA3808629

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 285861
• ClinVar RCV Id: RCV000403427 ; RCV000791184 ; RCV001165007 ; RCV001165008 ; RCV001165009 ; RCV001165010 ; RCV001165012 ; RCV001165011
• dbSNP Id: rs563581127
• ExAC: 6:42689706 G / A
• gnomAD v2: 6-42689706-G-A
• gnomAD v3: 6-42721968-G-A
• gnomAD v4: 6-42721968-G-A
• COSMIC: COSM188503
• MyVariant Identifiers: chr6:g.42689706G>A (hg19) ; chr6:g.42721968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721968G>A , CM000668.2:g.42721968G>A	GRCh38
NC_000006.11:g.42689706G>A , CM000668.1:g.42689706G>A	GRCh37
NC_000006.10:g.42797684G>A	NCBI36
NG_009176.1:g.5653C>T
NG_009176.2:g.5653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.367C>T MANE Select	ENSP00000230381.5:p.Arg123Trp
ENST00000230381.6:c.367C>T	ENSP00000230381.5:p.Arg123Trp
NM_000322.4:c.367C>T	NP_000313.2:p.Arg123Trp
XR_427834.2:n.1022C>T
XR_926295.1:n.1022C>T
XR_427834.4:n.1072C>T
XR_926295.3:n.1072C>T
NM_000322.5:c.367C>T MANE Select	NP_000313.2:p.Arg123Trp