Canonical Allele Identifier: CA138187695
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs540226022
gnomAD v2: 6-42690141-G-T
gnomAD v3: 6-42722403-G-T
gnomAD v4: 6-42722403-G-T
MyVariant Identifiers: chr6:g.42690141G>T (hg19) chr6:g.42722403G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722403G>T , CM000668.2:g.42722403G>T GRCh38
NC_000006.11:g.42690141G>T , CM000668.1:g.42690141G>T GRCh37
NC_000006.10:g.42798119G>T NCBI36
NG_009176.1:g.5218C>A
NG_009176.2:g.5218C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-69C>A MANE Select ENSP00000230381.5:n.-69C>A
ENST00000230381.6:c.-69C>A ENSP00000230381.5:n.-69C>A
NM_000322.4:c.-69C>A NP_000313.2:n.-69C>A
XR_427834.2:n.587C>A
XR_926295.1:n.587C>A
XR_427834.4:n.637C>A
XR_926295.3:n.637C>A
NM_000322.5:c.-69C>A MANE Select NP_000313.2:n.-69C>A
Search 100 bp 5'
Search 100 bp 3'