Canonical Allele Identifier: CA10622103

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356770
• ClinVar RCV Id: RCV000263415 ; RCV000285481 ; RCV000320942 ; RCV000324102 ; RCV000377955 ; RCV000380992
• dbSNP Id: rs886061402
• gnomAD v4: 6-42698082-T-G
• MyVariant Identifiers: chr6:g.42665820T>G (hg19) ; chr6:g.42698082T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42698082T>G , CM000668.2:g.42698082T>G	GRCh38
NC_000006.11:g.42665820T>G , CM000668.1:g.42665820T>G	GRCh37
NC_000006.10:g.42773798T>G	NCBI36
NG_009176.1:g.29539A>C
NG_009176.2:g.29539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*213A>C MANE Select	ENSP00000230381.5:n.*213A>C
ENST00000230381.6:c.*213A>C	ENSP00000230381.5:n.*213A>C
NM_000322.4:c.*213A>C	NP_000313.2:n.*213A>C
XR_926295.3:n.2141A>C
NM_000322.5:c.*213A>C MANE Select	NP_000313.2:n.*213A>C