Canonical Allele Identifier: CA9868822
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1759420
ClinVar RCV Id: RCV002393920
dbSNP Id: rs749739988
ExAC: 20:42788674 G / C
gnomAD v2: 20-42788674-G-C
gnomAD v3: 20-44160034-G-C
gnomAD v4: 20-44160034-G-C
MyVariant Identifiers: chr20:g.42788674G>C (hg19) chr20:g.44160034G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160034G>C , CM000682.2:g.44160034G>C GRCh38
NC_000020.10:g.42788674G>C , CM000682.1:g.42788674G>C GRCh37
NC_000020.9:g.42222088G>C NCBI36
NG_031867.1:g.32545C>G , LRG_394:g.32545C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.753C>G MANE Select ENSP00000362071.3:p.Ser251Arg
ENST00000372980.3:c.753C>G ENSP00000362071.3:p.Ser251Arg
NM_020433.4:c.753C>G , LRG_394t1:c.753C>G NP_065166.2:p.Ser251Arg
XM_006723832.2:c.753C>G XP_006723895.1:p.Ser251Arg
NM_020433.5:c.753C>G MANE Select NP_065166.2:p.Ser251Arg
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