Canonical Allele Identifier: CA2678772513
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42721691-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721691G>T , CM000668.2:g.42721691G>T GRCh38
NC_000006.11:g.42689429G>T , CM000668.1:g.42689429G>T GRCh37
NC_000006.10:g.42797407G>T NCBI36
NG_009176.1:g.5930C>A
NG_009176.2:g.5930C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+63C>A MANE Select ENSP00000230381.5:n.581+63C>A
ENST00000230381.6:c.581+63C>A ENSP00000230381.5:n.581+63C>A
NM_000322.4:c.581+63C>A NP_000313.2:n.581+63C>A
XR_427834.2:n.1236+63C>A
XR_926295.1:n.1236+63C>A
XR_427834.4:n.1286+63C>A
XR_926295.3:n.1286+63C>A
NM_000322.5:c.581+63C>A MANE Select NP_000313.2:n.581+63C>A
Search 100 bp 5'
Search 100 bp 3'