Canonical Allele Identifier: CA174960

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98691
• ClinVar RCV Id: RCV000085002 ; RCV000149468 ; RCV000149469 ; RCV001854492
• dbSNP Id: rs61755802
• gnomAD v2: 6-42672294-A-G
• gnomAD v4: 6-42704556-A-G
• MyVariant Identifiers: chr6:g.42672294A>G (hg19) ; chr6:g.42704556A>G (hg38)
• PubMed: PMID:9443872 ; PMID:23847139

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704556A>G , CM000668.2:g.42704556A>G	GRCh38
NC_000006.11:g.42672294A>G , CM000668.1:g.42672294A>G	GRCh37
NC_000006.10:g.42780272A>G	NCBI36
NG_009176.1:g.23065T>C
NG_009176.2:g.23065T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.637T>C MANE Select	ENSP00000230381.5:p.Cys213Arg
ENST00000230381.6:c.637T>C	ENSP00000230381.5:p.Cys213Arg
NM_000322.4:c.637T>C	NP_000313.2:p.Cys213Arg
XR_427834.2:n.1292T>C
XR_926295.1:n.1474T>C
XR_427834.4:n.1342T>C
XR_926295.3:n.1524T>C
NM_000322.5:c.637T>C MANE Select	NP_000313.2:p.Cys213Arg