Canonical Allele Identifier: CA237199
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191668
dbSNP Id: rs778410296

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44115724T>C , CM000682.2:g.44115724T>C GRCh38
NC_000020.10:g.42744364T>C , CM000682.1:g.42744364T>C GRCh37
NC_000020.9:g.42177778T>C NCBI36
NG_031867.1:g.76855A>G , LRG_394:g.76855A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1951A>G MANE Select ENSP00000362071.3:p.Lys651Glu
ENST00000372980.3:c.1951A>G ENSP00000362071.3:p.Lys651Glu
NM_020433.4:c.1951A>G , LRG_394t1:c.1951A>G NP_065166.2:p.Lys651Glu
XM_006723832.2:c.1951A>G XP_006723895.1:p.Lys651Glu
NM_020433.5:c.1951A>G MANE Select NP_065166.2:p.Lys651Glu