Canonical Allele Identifier: CA10622105

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356772
• ClinVar RCV Id: RCV000264852 ; RCV000300143 ; RCV000314493 ; RCV000353003 ; RCV000357311 ; RCV000402690
• dbSNP Id: rs886061403
• gnomAD v3: 6-42698141-G-A
• gnomAD v4: 6-42698141-G-A
• MyVariant Identifiers: chr6:g.42665879G>A (hg19) ; chr6:g.42698141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42698141G>A , CM000668.2:g.42698141G>A	GRCh38
NC_000006.11:g.42665879G>A , CM000668.1:g.42665879G>A	GRCh37
NC_000006.10:g.42773857G>A	NCBI36
NG_009176.1:g.29480C>T
NG_009176.2:g.29480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*154C>T MANE Select	ENSP00000230381.5:n.*154C>T
ENST00000230381.6:c.*154C>T	ENSP00000230381.5:n.*154C>T
NM_000322.4:c.*154C>T	NP_000313.2:n.*154C>T
XR_926295.3:n.2082C>T
NM_000322.5:c.*154C>T MANE Select	NP_000313.2:n.*154C>T