Canonical Allele Identifier: CA10623927

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356761
• ClinVar RCV Id: RCV000289095 ; RCV000282855 ; RCV000323813 ; RCV000344096 ; RCV000378833 ; RCV000384684
• dbSNP Id: rs188694434
• gnomAD v2: 6-42665236-C-T
• gnomAD v3: 6-42697498-C-T
• gnomAD v4: 6-42697498-C-T
• MyVariant Identifiers: chr6:g.42665236C>T (hg19) ; chr6:g.42697498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42697498C>T , CM000668.2:g.42697498C>T	GRCh38
NC_000006.11:g.42665236C>T , CM000668.1:g.42665236C>T	GRCh37
NC_000006.10:g.42773214C>T	NCBI36
NG_009176.1:g.30123G>A
NG_009176.2:g.30123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*797G>A MANE Select	ENSP00000230381.5:n.*797G>A
ENST00000230381.6:c.*797G>A	ENSP00000230381.5:n.*797G>A
NM_000322.4:c.*797G>A	NP_000313.2:n.*797G>A
XR_926295.3:n.2725G>A
NM_000322.5:c.*797G>A MANE Select	NP_000313.2:n.*797G>A