Canonical Allele Identifier: CA450244475
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1761919669
gnomAD v3: 6-42722269-G-A
gnomAD v4: 6-42722269-G-A
MyVariant Identifiers: chr6:g.42690007G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722269G>A , CM000668.2:g.42722269G>A GRCh38
NC_000006.11:g.42690007G>A , CM000668.1:g.42690007G>A GRCh37
NC_000006.10:g.42797985G>A NCBI36
NG_009176.1:g.5352C>T
NG_009176.2:g.5352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.66C>T MANE Select ENSP00000230381.5:p.Leu22=
ENST00000230381.6:c.66C>T ENSP00000230381.5:p.Leu22=
NM_000322.4:c.66C>T NP_000313.2:p.Leu22=
XR_427834.2:n.721C>T
XR_926295.1:n.721C>T
XR_427834.4:n.771C>T
XR_926295.3:n.771C>T
NM_000322.5:c.66C>T MANE Select NP_000313.2:p.Leu22=
Search 100 bp 5'
Search 100 bp 3'