Canonical Allele Identifier: CA3808597
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 866955
ClinVar RCV Id: RCV001075367 RCV001213611 RCV001250371 RCV001530303
dbSNP Id: rs779414078
ExAC: 6:42689536 C / A
gnomAD v2: 6-42689536-C-A
gnomAD v3: 6-42721798-C-A
gnomAD v4: 6-42721798-C-A
MyVariant Identifiers: chr6:g.42689536C>A (hg19) chr6:g.42721798C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721798C>A , CM000668.2:g.42721798C>A GRCh38
NC_000006.11:g.42689536C>A , CM000668.1:g.42689536C>A GRCh37
NC_000006.10:g.42797514C>A NCBI36
NG_009176.1:g.5823G>T
NG_009176.2:g.5823G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.537G>T MANE Select ENSP00000230381.5:p.Trp179Cys
ENST00000230381.6:c.537G>T ENSP00000230381.5:p.Trp179Cys
NM_000322.4:c.537G>T NP_000313.2:p.Trp179Cys
XR_427834.2:n.1192G>T
XR_926295.1:n.1192G>T
XR_427834.4:n.1242G>T
XR_926295.3:n.1242G>T
NM_000322.5:c.537G>T MANE Select NP_000313.2:p.Trp179Cys
Search 100 bp 5'
Search 100 bp 3'