Canonical Allele Identifier: CA450244481
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2024015
ClinVar RCV Id: RCV002863002
MyVariant Identifiers: chr6:g.42690019T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722281T>C , CM000668.2:g.42722281T>C GRCh38
NC_000006.11:g.42690019T>C , CM000668.1:g.42690019T>C GRCh37
NC_000006.10:g.42797997T>C NCBI36
NG_009176.1:g.5340A>G
NG_009176.2:g.5340A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.54A>G MANE Select ENSP00000230381.5:p.Gln18=
ENST00000230381.6:c.54A>G ENSP00000230381.5:p.Gln18=
NM_000322.4:c.54A>G NP_000313.2:p.Gln18=
XR_427834.2:n.709A>G
XR_926295.1:n.709A>G
XR_427834.4:n.759A>G
XR_926295.3:n.759A>G
NM_000322.5:c.54A>G MANE Select NP_000313.2:p.Gln18=
Search 100 bp 5'
Search 100 bp 3'