Canonical Allele Identifier: CA3808615
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418424
ClinVar RCV Id: RCV000486555 RCV001302351 RCV001250321
dbSNP Id: rs554945964
ExAC: 6:42689648 C / T
gnomAD v2: 6-42689648-C-T
gnomAD v3: 6-42721910-C-T
gnomAD v4: 6-42721910-C-T
COSMIC: COSM3394204
MyVariant Identifiers: chr6:g.42689648C>T (hg19) chr6:g.42721910C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721910C>T , CM000668.2:g.42721910C>T GRCh38
NC_000006.11:g.42689648C>T , CM000668.1:g.42689648C>T GRCh37
NC_000006.10:g.42797626C>T NCBI36
NG_009176.1:g.5711G>A
NG_009176.2:g.5711G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.425G>A MANE Select ENSP00000230381.5:p.Arg142Gln
ENST00000230381.6:c.425G>A ENSP00000230381.5:p.Arg142Gln
NM_000322.4:c.425G>A NP_000313.2:p.Arg142Gln
XR_427834.2:n.1080G>A
XR_926295.1:n.1080G>A
XR_427834.4:n.1130G>A
XR_926295.3:n.1130G>A
NM_000322.5:c.425G>A MANE Select NP_000313.2:p.Arg142Gln
Search 100 bp 5'
Search 100 bp 3'