Canonical Allele Identifier: CA364137547
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2702683
ClinVar RCV Id: RCV003592543
MyVariant Identifiers: chr6:g.42689628T>C (hg19) chr6:g.42721890T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721890T>C , CM000668.2:g.42721890T>C GRCh38
NC_000006.11:g.42689628T>C , CM000668.1:g.42689628T>C GRCh37
NC_000006.10:g.42797606T>C NCBI36
NG_009176.1:g.5731A>G
NG_009176.2:g.5731A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.445A>G MANE Select ENSP00000230381.5:p.Arg149Gly
ENST00000230381.6:c.445A>G ENSP00000230381.5:p.Arg149Gly
NM_000322.4:c.445A>G NP_000313.2:p.Arg149Gly
XR_427834.2:n.1100A>G
XR_926295.1:n.1100A>G
XR_427834.4:n.1150A>G
XR_926295.3:n.1150A>G
NM_000322.5:c.445A>G MANE Select NP_000313.2:p.Arg149Gly
Search 100 bp 5'
Search 100 bp 3'