Canonical Allele Identifier: CA10626759
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356765
ClinVar RCV Id: RCV000272880 RCV000276607 RCV000279063 RCV000301247 RCV000333939 RCV000387213 RCV001692031
dbSNP Id: rs55851577
gnomAD v2: 6-42665548-T-TAA
gnomAD v3: 6-42697810-T-TAA
gnomAD v4: 6-42697810-T-TAA
COSMIC: COSN20102850
MyVariant Identifiers: chr6:g.42665549_42665550dupAA (hg19) chr6:g.42665551_42665552insAA (hg19) chr6:g.42665548_42665549insAA (hg19) chr6:g.42697811_42697812dupAA (hg38) chr6:g.42697813_42697814insAA (hg38) chr6:g.42697810_42697811insAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42697825_42697826dup , CM000668.2:g.42697825_42697826dup GRCh38
NC_000006.11:g.42665563_42665564dup , CM000668.1:g.42665563_42665564dup GRCh37
NC_000006.10:g.42773541_42773542dup NCBI36
NG_009176.1:g.29809_29810dup
NG_009176.2:g.29809_29810dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.*483_*484dup MANE Select ENSP00000230381.5:n.*483_*484dup
ENST00000230381.6:c.*483_*484dup ENSP00000230381.5:n.*483_*484dup
NM_000322.4:c.*483_*484dup NP_000313.2:n.*483_*484dup
XR_926295.3:n.2411_2412dup
NM_000322.5:c.*483_*484dup MANE Select NP_000313.2:n.*483_*484dup
Search 100 bp 5'
Search 100 bp 3'