Canonical Allele Identifier: CA2652956984
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44160431-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160431C>A , CM000682.2:g.44160431C>A GRCh38
NC_000020.10:g.42789071C>A , CM000682.1:g.42789071C>A GRCh37
NC_000020.9:g.42222485C>A NCBI36
NG_031867.1:g.32148G>T , LRG_394:g.32148G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.380-24G>T MANE Select ENSP00000362071.3:n.380-24G>T
ENST00000372980.3:c.380-24G>T ENSP00000362071.3:n.380-24G>T
NM_020433.4:c.380-24G>T , LRG_394t1:c.380-24G>T NP_065166.2:n.380-24G>T
XM_006723832.2:c.380-24G>T XP_006723895.1:n.380-24G>T
NM_020433.5:c.380-24G>T MANE Select NP_065166.2:n.380-24G>T
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