Canonical Allele Identifier: CA364138153
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 865978
ClinVar RCV Id: RCV001073624 RCV001250293 RCV001530300 RCV001862510
dbSNP Id: rs1242862941
MyVariant Identifiers: chr6:g.42689827G>T (hg19) chr6:g.42722089G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722089G>T , CM000668.2:g.42722089G>T GRCh38
NC_000006.11:g.42689827G>T , CM000668.1:g.42689827G>T GRCh37
NC_000006.10:g.42797805G>T NCBI36
NG_009176.1:g.5532C>A
NG_009176.2:g.5532C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.246C>A MANE Select ENSP00000230381.5:p.Cys82Ter
ENST00000230381.6:c.246C>A ENSP00000230381.5:p.Cys82Ter
NM_000322.4:c.246C>A NP_000313.2:p.Cys82Ter
XR_427834.2:n.901C>A
XR_926295.1:n.901C>A
XR_427834.4:n.951C>A
XR_926295.3:n.951C>A
NM_000322.5:c.246C>A MANE Select NP_000313.2:p.Cys82Ter
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