Canonical Allele Identifier: CA364137556
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1398079
ClinVar RCV Id: RCV001912749
dbSNP Id: rs2152010934
MyVariant Identifiers: chr6:g.42689633G>T (hg19) chr6:g.42721895G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721895G>T , CM000668.2:g.42721895G>T GRCh38
NC_000006.11:g.42689633G>T , CM000668.1:g.42689633G>T GRCh37
NC_000006.10:g.42797611G>T NCBI36
NG_009176.1:g.5726C>A
NG_009176.2:g.5726C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.440C>A MANE Select ENSP00000230381.5:p.Pro147His
ENST00000230381.6:c.440C>A ENSP00000230381.5:p.Pro147His
NM_000322.4:c.440C>A NP_000313.2:p.Pro147His
XR_427834.2:n.1095C>A
XR_926295.1:n.1095C>A
XR_427834.4:n.1145C>A
XR_926295.3:n.1145C>A
NM_000322.5:c.440C>A MANE Select NP_000313.2:p.Pro147His
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