Canonical Allele Identifier: CA364138978
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175237
ClinVar RCV Id: RCV001530269
dbSNP Id: rs1424831291
MyVariant Identifiers: chr6:g.42690069C>A (hg19) chr6:g.42722331C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722331C>A , CM000668.2:g.42722331C>A GRCh38
NC_000006.11:g.42690069C>A , CM000668.1:g.42690069C>A GRCh37
NC_000006.10:g.42798047C>A NCBI36
NG_009176.1:g.5290G>T
NG_009176.2:g.5290G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.4G>T MANE Select ENSP00000230381.5:p.Ala2Ser
ENST00000230381.6:c.4G>T ENSP00000230381.5:p.Ala2Ser
NM_000322.4:c.4G>T NP_000313.2:p.Ala2Ser
XR_427834.2:n.659G>T
XR_926295.1:n.659G>T
XR_427834.4:n.709G>T
XR_926295.3:n.709G>T
NM_000322.5:c.4G>T MANE Select NP_000313.2:p.Ala2Ser
Search 100 bp 5'
Search 100 bp 3'