Canonical Allele Identifier: CA122934
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13169
ClinVar RCV Id: RCV000014055 RCV000084977 RCV001857348
dbSNP Id: rs61755789
MyVariant Identifiers: chr6:g.42689573C>T (hg19) chr6:g.42721835C>T (hg38)
PubMed: PMID:8485574
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721835C>T , CM000668.2:g.42721835C>T GRCh38
NC_000006.11:g.42689573C>T , CM000668.1:g.42689573C>T GRCh37
NC_000006.10:g.42797551C>T NCBI36
NG_009176.1:g.5786G>A
NG_009176.2:g.5786G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.500G>A MANE Select ENSP00000230381.5:p.Gly167Asp
ENST00000230381.6:c.500G>A ENSP00000230381.5:p.Gly167Asp
NM_000322.4:c.500G>A NP_000313.2:p.Gly167Asp
XR_427834.2:n.1155G>A
XR_926295.1:n.1155G>A
XR_427834.4:n.1205G>A
XR_926295.3:n.1205G>A
NM_000322.5:c.500G>A MANE Select NP_000313.2:p.Gly167Asp
Search 100 bp 5'
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