Canonical Allele Identifier: CA3808617
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175245
ClinVar RCV Id: RCV001530285 RCV001882582
dbSNP Id: rs781256236
ExAC: 6:42689664 C / T
gnomAD v2: 6-42689664-C-T
gnomAD v3: 6-42721926-C-T
gnomAD v4: 6-42721926-C-T
MyVariant Identifiers: chr6:g.42689664C>T (hg19) chr6:g.42721926C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721926C>T , CM000668.2:g.42721926C>T GRCh38
NC_000006.11:g.42689664C>T , CM000668.1:g.42689664C>T GRCh37
NC_000006.10:g.42797642C>T NCBI36
NG_009176.1:g.5695G>A
NG_009176.2:g.5695G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.409G>A MANE Select ENSP00000230381.5:p.Gly137Ser
ENST00000230381.6:c.409G>A ENSP00000230381.5:p.Gly137Ser
NM_000322.4:c.409G>A NP_000313.2:p.Gly137Ser
XR_427834.2:n.1064G>A
XR_926295.1:n.1064G>A
XR_427834.4:n.1114G>A
XR_926295.3:n.1114G>A
NM_000322.5:c.409G>A MANE Select NP_000313.2:p.Gly137Ser
Search 100 bp 5'
Search 100 bp 3'