Canonical Allele Identifier: CA3808670
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs752955075
ExAC: 6:42690019 T / A
gnomAD v2: 6-42690019-T-A
gnomAD v4: 6-42722281-T-A
COSMIC: COSM76069
MyVariant Identifiers: chr6:g.42690019T>A (hg19) chr6:g.42722281T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722281T>A , CM000668.2:g.42722281T>A GRCh38
NC_000006.11:g.42690019T>A , CM000668.1:g.42690019T>A GRCh37
NC_000006.10:g.42797997T>A NCBI36
NG_009176.1:g.5340A>T
NG_009176.2:g.5340A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.54A>T MANE Select ENSP00000230381.5:p.Gln18His
ENST00000230381.6:c.54A>T ENSP00000230381.5:p.Gln18His
NM_000322.4:c.54A>T NP_000313.2:p.Gln18His
XR_427834.2:n.709A>T
XR_926295.1:n.709A>T
XR_427834.4:n.759A>T
XR_926295.3:n.759A>T
NM_000322.5:c.54A>T MANE Select NP_000313.2:p.Gln18His
Search 100 bp 5'
Search 100 bp 3'