Canonical Allele Identifier: CA9868689
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1099945
ClinVar RCV Id: RCV001422361 RCV002449147
dbSNP Id: rs113719056
ExAC: 20:42747161 C / T
gnomAD v2: 20-42747161-C-T
gnomAD v3: 20-44118521-C-T
gnomAD v4: 20-44118521-C-T
MyVariant Identifiers: chr20:g.42747161C>T (hg19) chr20:g.44118521C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118521C>T , CM000682.2:g.44118521C>T GRCh38
NC_000020.10:g.42747161C>T , CM000682.1:g.42747161C>T GRCh37
NC_000020.9:g.42180575C>T NCBI36
NG_031867.1:g.74058G>A , LRG_394:g.74058G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1272G>A MANE Select ENSP00000362071.3:p.Pro424=
ENST00000372980.3:c.1272G>A ENSP00000362071.3:p.Pro424=
NM_020433.4:c.1272G>A , LRG_394t1:c.1272G>A NP_065166.2:p.Pro424=
XM_006723832.2:c.1272G>A XP_006723895.1:p.Pro424=
NM_020433.5:c.1272G>A MANE Select NP_065166.2:p.Pro424=
Search 100 bp 5'
Search 100 bp 3'