Canonical Allele Identifier: CA364138944
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 809933
ClinVar RCV Id: RCV000998599 RCV002549097
dbSNP Id: rs1582781191
gnomAD v3: 6-42722314-C-A
gnomAD v4: 6-42722314-C-A
MyVariant Identifiers: chr6:g.42690052C>A (hg19) chr6:g.42722314C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722314C>A , CM000668.2:g.42722314C>A GRCh38
NC_000006.11:g.42690052C>A , CM000668.1:g.42690052C>A GRCh37
NC_000006.10:g.42798030C>A NCBI36
NG_009176.1:g.5307G>T
NG_009176.2:g.5307G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.21G>T MANE Select ENSP00000230381.5:p.Lys7Asn
ENST00000230381.6:c.21G>T ENSP00000230381.5:p.Lys7Asn
NM_000322.4:c.21G>T NP_000313.2:p.Lys7Asn
XR_427834.2:n.676G>T
XR_926295.1:n.676G>T
XR_427834.4:n.726G>T
XR_926295.3:n.726G>T
NM_000322.5:c.21G>T MANE Select NP_000313.2:p.Lys7Asn
Search 100 bp 5'
Search 100 bp 3'