Canonical Allele Identifier: CA10622104

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356771
• ClinVar RCV Id: RCV000292344 ; RCV000288808 ; RCV000346159 ; RCV000349440 ; RCV000392913 ; RCV000403551 ; RCV001707677
• dbSNP Id: rs73426412
• gnomAD v2: 6-42665859-G-A
• gnomAD v3: 6-42698121-G-A
• gnomAD v4: 6-42698121-G-A
• MyVariant Identifiers: chr6:g.42665859G>A (hg19) ; chr6:g.42698121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42698121G>A , CM000668.2:g.42698121G>A	GRCh38
NC_000006.11:g.42665859G>A , CM000668.1:g.42665859G>A	GRCh37
NC_000006.10:g.42773837G>A	NCBI36
NG_009176.1:g.29500C>T
NG_009176.2:g.29500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*174C>T MANE Select	ENSP00000230381.5:n.*174C>T
ENST00000230381.6:c.*174C>T	ENSP00000230381.5:n.*174C>T
NM_000322.4:c.*174C>T	NP_000313.2:n.*174C>T
XR_926295.3:n.2102C>T
NM_000322.5:c.*174C>T MANE Select	NP_000313.2:n.*174C>T