Canonical Allele Identifier: CA9868803
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs748282723
ExAC: 20:42788589 C / G
gnomAD v2: 20-42788589-C-G
gnomAD v4: 20-44159949-C-G
MyVariant Identifiers: chr20:g.42788589C>G (hg19) chr20:g.44159949C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44159949C>G , CM000682.2:g.44159949C>G GRCh38
NC_000020.10:g.42788589C>G , CM000682.1:g.42788589C>G GRCh37
NC_000020.9:g.42222003C>G NCBI36
NG_031867.1:g.32630G>C , LRG_394:g.32630G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.838G>C MANE Select ENSP00000362071.3:p.Glu280Gln
ENST00000372980.3:c.838G>C ENSP00000362071.3:p.Glu280Gln
NM_020433.4:c.838G>C , LRG_394t1:c.838G>C NP_065166.2:p.Glu280Gln
XM_006723832.2:c.838G>C XP_006723895.1:p.Glu280Gln
NM_020433.5:c.838G>C MANE Select NP_065166.2:p.Glu280Gln
Search 100 bp 5'
Search 100 bp 3'