Canonical Allele Identifier: CA10622102

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356762
• ClinVar RCV Id: RCV000290349 ; RCV000314895 ; RCV000349939 ; RCV000351245 ; RCV000403470 ; RCV000403193 ; RCV001712089
• dbSNP Id: rs1758213
• gnomAD v2: 6-42665271-G-A
• gnomAD v3: 6-42697533-G-A
• gnomAD v4: 6-42697533-G-A
• MyVariant Identifiers: chr6:g.42665271G>A (hg19) ; chr6:g.42697533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42697533G>A , CM000668.2:g.42697533G>A	GRCh38
NC_000006.11:g.42665271G>A , CM000668.1:g.42665271G>A	GRCh37
NC_000006.10:g.42773249G>A	NCBI36
NG_009176.1:g.30088C>T
NG_009176.2:g.30088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*762C>T MANE Select	ENSP00000230381.5:n.*762C>T
ENST00000230381.6:c.*762C>T	ENSP00000230381.5:n.*762C>T
NM_000322.4:c.*762C>T	NP_000313.2:n.*762C>T
XR_926295.3:n.2690C>T
NM_000322.5:c.*762C>T MANE Select	NP_000313.2:n.*762C>T