Canonical Allele Identifier: CA2652956037
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2984972
ClinVar RCV Id: RCV003846115
gnomAD v4: 20-44118626-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118626A>G , CM000682.2:g.44118626A>G GRCh38
NC_000020.10:g.42747266A>G , CM000682.1:g.42747266A>G GRCh37
NC_000020.9:g.42180680A>G NCBI36
NG_031867.1:g.73953T>C , LRG_394:g.73953T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1170-3T>C MANE Select ENSP00000362071.3:n.1170-3T>C
ENST00000372980.3:c.1170-3T>C ENSP00000362071.3:n.1170-3T>C
NM_020433.4:c.1170-3T>C , LRG_394t1:c.1170-3T>C NP_065166.2:n.1170-3T>C
XM_006723832.2:c.1170-3T>C XP_006723895.1:n.1170-3T>C
NM_020433.5:c.1170-3T>C MANE Select NP_065166.2:n.1170-3T>C
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