Canonical Allele Identifier: CA510571428
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2877226
ClinVar RCV Id: RCV003748062
gnomAD v4: 20-44118620-T-C
MyVariant Identifiers: chr20:g.42747260T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118620T>C , CM000682.2:g.44118620T>C GRCh38
NC_000020.10:g.42747260T>C , CM000682.1:g.42747260T>C GRCh37
NC_000020.9:g.42180674T>C NCBI36
NG_031867.1:g.73959A>G , LRG_394:g.73959A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1173A>G MANE Select ENSP00000362071.3:p.Thr391=
ENST00000372980.3:c.1173A>G ENSP00000362071.3:p.Thr391=
NM_020433.4:c.1173A>G , LRG_394t1:c.1173A>G NP_065166.2:p.Thr391=
XM_006723832.2:c.1173A>G XP_006723895.1:p.Thr391=
NM_020433.5:c.1173A>G MANE Select NP_065166.2:p.Thr391=
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