Canonical Allele Identifier: CA226220
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98659
ClinVar RCV Id: RCV000084962
dbSNP Id: rs61755776
MyVariant Identifiers: chr6:g.42689770G>A (hg19) chr6:g.42722032G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722032G>A , CM000668.2:g.42722032G>A GRCh38
NC_000006.11:g.42689770G>A , CM000668.1:g.42689770G>A GRCh37
NC_000006.10:g.42797748G>A NCBI36
NG_009176.1:g.5589C>T
NG_009176.2:g.5589C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.303C>T MANE Select ENSP00000230381.5:p.Tyr101=
ENST00000230381.6:c.303C>T ENSP00000230381.5:p.Tyr101=
NM_000322.4:c.303C>T NP_000313.2:p.Tyr101=
XR_427834.2:n.958C>T
XR_926295.1:n.958C>T
XR_427834.4:n.1008C>T
XR_926295.3:n.1008C>T
NM_000322.5:c.303C>T MANE Select NP_000313.2:p.Tyr101=
Search 100 bp 5'
Search 100 bp 3'