Canonical Allele Identifier: CA9868692
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1516041
ClinVar RCV Id: RCV002023652 RCV002389040
dbSNP Id: rs190802013
ExAC: 20:42747186 C / A
gnomAD v2: 20-42747186-C-A
gnomAD v3: 20-44118546-C-A
gnomAD v4: 20-44118546-C-A
MyVariant Identifiers: chr20:g.42747186C>A (hg19) chr20:g.44118546C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118546C>A , CM000682.2:g.44118546C>A GRCh38
NC_000020.10:g.42747186C>A , CM000682.1:g.42747186C>A GRCh37
NC_000020.9:g.42180600C>A NCBI36
NG_031867.1:g.74033G>T , LRG_394:g.74033G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1247G>T MANE Select ENSP00000362071.3:p.Arg416Leu
ENST00000372980.3:c.1247G>T ENSP00000362071.3:p.Arg416Leu
NM_020433.4:c.1247G>T , LRG_394t1:c.1247G>T NP_065166.2:p.Arg416Leu
XM_006723832.2:c.1247G>T XP_006723895.1:p.Arg416Leu
NM_020433.5:c.1247G>T MANE Select NP_065166.2:p.Arg416Leu
Search 100 bp 5'
Search 100 bp 3'