Canonical Allele Identifier: CA3808550
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1536486
ClinVar RCV Id: RCV002090337
dbSNP Id: rs375272298
ExAC: 6:42672247 G / A
gnomAD v2: 6-42672247-G-A
gnomAD v3: 6-42704509-G-A
gnomAD v4: 6-42704509-G-A
MyVariant Identifiers: chr6:g.42672247G>A (hg19) chr6:g.42704509G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704509G>A , CM000668.2:g.42704509G>A GRCh38
NC_000006.11:g.42672247G>A , CM000668.1:g.42672247G>A GRCh37
NC_000006.10:g.42780225G>A NCBI36
NG_009176.1:g.23112C>T
NG_009176.2:g.23112C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.684C>T MANE Select ENSP00000230381.5:p.Thr228=
ENST00000230381.6:c.684C>T ENSP00000230381.5:p.Thr228=
NM_000322.4:c.684C>T NP_000313.2:p.Thr228=
XR_427834.2:n.1339C>T
XR_427834.4:n.1389C>T
XR_926295.3:n.1571C>T
NM_000322.5:c.684C>T MANE Select NP_000313.2:p.Thr228=
Search 100 bp 5'
Search 100 bp 3'