Canonical Allele Identifier: CA9868845
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs559155501
ExAC: 20:42789065 G / C
gnomAD v2: 20-42789065-G-C
gnomAD v3: 20-44160425-G-C
gnomAD v4: 20-44160425-G-C
MyVariant Identifiers: chr20:g.42789065G>C (hg19) chr20:g.44160425G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160425G>C , CM000682.2:g.44160425G>C GRCh38
NC_000020.10:g.42789065G>C , CM000682.1:g.42789065G>C GRCh37
NC_000020.9:g.42222479G>C NCBI36
NG_031867.1:g.32154C>G , LRG_394:g.32154C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.380-18C>G MANE Select ENSP00000362071.3:n.380-18C>G
ENST00000372980.3:c.380-18C>G ENSP00000362071.3:n.380-18C>G
NM_020433.4:c.380-18C>G , LRG_394t1:c.380-18C>G NP_065166.2:n.380-18C>G
XM_006723832.2:c.380-18C>G XP_006723895.1:n.380-18C>G
NM_020433.5:c.380-18C>G MANE Select NP_065166.2:n.380-18C>G
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