Canonical Allele Identifier: CA226291

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98698
• ClinVar RCV Id: RCV000085010 ; RCV000787873 ; RCV001075102 ; RCV001247286 ; RCV001250379 ; RCV002288583
• dbSNP Id: rs61755809
• gnomAD v4: 6-42704535-G-A
• MyVariant Identifiers: chr6:g.42672273G>A (hg19) ; chr6:g.42704535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704535G>A , CM000668.2:g.42704535G>A	GRCh38
NC_000006.11:g.42672273G>A , CM000668.1:g.42672273G>A	GRCh37
NC_000006.10:g.42780251G>A	NCBI36
NG_009176.1:g.23086C>T
NG_009176.2:g.23086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.658C>T MANE Select	ENSP00000230381.5:p.Arg220Trp
ENST00000230381.6:c.658C>T	ENSP00000230381.5:p.Arg220Trp
NM_000322.4:c.658C>T	NP_000313.2:p.Arg220Trp
XR_427834.2:n.1313C>T
XR_926295.1:n.1495C>T
XR_427834.4:n.1363C>T
XR_926295.3:n.1545C>T
NM_000322.5:c.658C>T MANE Select	NP_000313.2:p.Arg220Trp