Canonical Allele Identifier: CA2678772503
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1761903322
gnomAD v4: 6-42721676-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721676G>A , CM000668.2:g.42721676G>A GRCh38
NC_000006.11:g.42689414G>A , CM000668.1:g.42689414G>A GRCh37
NC_000006.10:g.42797392G>A NCBI36
NG_009176.1:g.5945C>T
NG_009176.2:g.5945C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+78C>T MANE Select ENSP00000230381.5:n.581+78C>T
ENST00000230381.6:c.581+78C>T ENSP00000230381.5:n.581+78C>T
NM_000322.4:c.581+78C>T NP_000313.2:n.581+78C>T
XR_427834.2:n.1236+78C>T
XR_926295.1:n.1236+78C>T
XR_427834.4:n.1286+78C>T
XR_926295.3:n.1286+78C>T
NM_000322.5:c.581+78C>T MANE Select NP_000313.2:n.581+78C>T
Search 100 bp 5'
Search 100 bp 3'