Canonical Allele Identifier: CA409094256
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1324604
ClinVar RCV Id: RCV002471164
dbSNP Id: rs2072600840
gnomAD v4: 20-44160282-C-T
MyVariant Identifiers: chr20:g.42788922C>T (hg19) chr20:g.44160282C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160282C>T , CM000682.2:g.44160282C>T GRCh38
NC_000020.10:g.42788922C>T , CM000682.1:g.42788922C>T GRCh37
NC_000020.9:g.42222336C>T NCBI36
NG_031867.1:g.32297G>A , LRG_394:g.32297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.505G>A MANE Select ENSP00000362071.3:p.Glu169Lys
ENST00000372980.3:c.505G>A ENSP00000362071.3:p.Glu169Lys
NM_020433.4:c.505G>A , LRG_394t1:c.505G>A NP_065166.2:p.Glu169Lys
XM_006723832.2:c.505G>A XP_006723895.1:p.Glu169Lys
NM_020433.5:c.505G>A MANE Select NP_065166.2:p.Glu169Lys
Search 100 bp 5'
Search 100 bp 3'