Canonical Allele Identifier: CA138187619
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs771729924
gnomAD v4: 6-42722340-C-T
MyVariant Identifiers: chr6:g.42690078C>T (hg19) chr6:g.42722340C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722340C>T , CM000668.2:g.42722340C>T GRCh38
NC_000006.11:g.42690078C>T , CM000668.1:g.42690078C>T GRCh37
NC_000006.10:g.42798056C>T NCBI36
NG_009176.1:g.5281G>A
NG_009176.2:g.5281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-6G>A MANE Select ENSP00000230381.5:n.-6G>A
ENST00000230381.6:c.-6G>A ENSP00000230381.5:n.-6G>A
NM_000322.4:c.-6G>A NP_000313.2:n.-6G>A
XR_427834.2:n.650G>A
XR_926295.1:n.650G>A
XR_427834.4:n.700G>A
XR_926295.3:n.700G>A
NM_000322.5:c.-6G>A MANE Select NP_000313.2:n.-6G>A
Search 100 bp 5'
Search 100 bp 3'