Canonical Allele Identifier: CA2678772577
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722404-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722404G>T , CM000668.2:g.42722404G>T GRCh38
NC_000006.11:g.42690142G>T , CM000668.1:g.42690142G>T GRCh37
NC_000006.10:g.42798120G>T NCBI36
NG_009176.1:g.5217C>A
NG_009176.2:g.5217C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-70C>A MANE Select ENSP00000230381.5:n.-70C>A
ENST00000230381.6:c.-70C>A ENSP00000230381.5:n.-70C>A
NM_000322.4:c.-70C>A NP_000313.2:n.-70C>A
XR_427834.2:n.586C>A
XR_926295.1:n.586C>A
XR_427834.4:n.636C>A
XR_926295.3:n.636C>A
NM_000322.5:c.-70C>A MANE Select NP_000313.2:n.-70C>A
Search 100 bp 5'
Search 100 bp 3'