Canonical Allele Identifier: CA10626857

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356747
• ClinVar RCV Id: RCV000278868 ; RCV000293930 ; RCV000318747 ; RCV000336240 ; RCV000375709 ; RCV000385903
• dbSNP Id: rs183409467
• gnomAD v2: 6-42664509-C-G
• gnomAD v3: 6-42696771-C-G
• gnomAD v4: 6-42696771-C-G
• MyVariant Identifiers: chr6:g.42664509C>G (hg19) ; chr6:g.42696771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42696771C>G , CM000668.2:g.42696771C>G	GRCh38
NC_000006.11:g.42664509C>G , CM000668.1:g.42664509C>G	GRCh37
NC_000006.10:g.42772487C>G	NCBI36
NG_009176.1:g.30850G>C
NG_009176.2:g.30850G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*1524G>C MANE Select	ENSP00000230381.5:n.*1524G>C
ENST00000230381.6:c.*1524G>C	ENSP00000230381.5:n.*1524G>C
NM_000322.4:c.*1524G>C	NP_000313.2:n.*1524G>C
XR_926295.3:n.3452G>C
NM_000322.5:c.*1524G>C MANE Select	NP_000313.2:n.*1524G>C