Canonical Allele Identifier: CA10626875

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356755
• ClinVar RCV Id: RCV000282368 ; RCV000302389 ; RCV000337325 ; RCV000336020 ; RCV000405986 ; RCV000405744
• dbSNP Id: rs886061400
• gnomAD v2: 6-42665026-G-T
• gnomAD v3: 6-42697288-G-T
• gnomAD v4: 6-42697288-G-T
• MyVariant Identifiers: chr6:g.42665026G>T (hg19) ; chr6:g.42697288G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42697288G>T , CM000668.2:g.42697288G>T	GRCh38
NC_000006.11:g.42665026G>T , CM000668.1:g.42665026G>T	GRCh37
NC_000006.10:g.42773004G>T	NCBI36
NG_009176.1:g.30333C>A
NG_009176.2:g.30333C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*1007C>A MANE Select	ENSP00000230381.5:n.*1007C>A
ENST00000230381.6:c.*1007C>A	ENSP00000230381.5:n.*1007C>A
NM_000322.4:c.*1007C>A	NP_000313.2:n.*1007C>A
XR_926295.3:n.2935C>A
NM_000322.5:c.*1007C>A MANE Select	NP_000313.2:n.*1007C>A