Canonical Allele Identifier: CA364138984
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1686100
ClinVar RCV Id: RCV002250267
dbSNP Id: rs121918565
gnomAD v4: 6-42722333-A-C
MyVariant Identifiers: chr6:g.42690071A>C (hg19) chr6:g.42722333A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722333A>C , CM000668.2:g.42722333A>C GRCh38
NC_000006.11:g.42690071A>C , CM000668.1:g.42690071A>C GRCh37
NC_000006.10:g.42798049A>C NCBI36
NG_009176.1:g.5288T>G
NG_009176.2:g.5288T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.2T>G MANE Select ENSP00000230381.5:p.Met1Arg
ENST00000230381.6:c.2T>G ENSP00000230381.5:p.Met1Arg
NM_000322.4:c.2T>G NP_000313.2:p.Met1Arg
XR_427834.2:n.657T>G
XR_926295.1:n.657T>G
XR_427834.4:n.707T>G
XR_926295.3:n.707T>G
NM_000322.5:c.2T>G MANE Select NP_000313.2:p.Met1Arg
Search 100 bp 5'
Search 100 bp 3'