Canonical Allele Identifier: CA2365647897
Gene: JPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160422A= , CM000682.2:g.44160422A= GRCh38
NC_000020.10:g.42789062A= , CM000682.1:g.42789062A= GRCh37
NC_000020.9:g.42222476A= NCBI36
NG_031867.1:g.32157T= , LRG_394:g.32157T=

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.380-15T= MANE Select ENSP00000362071.3:n.380-15T=
ENST00000372980.3:c.380-15T= ENSP00000362071.3:n.380-15T=
NM_020433.4:c.380-15T= , LRG_394t1:c.380-15T= NP_065166.2:n.380-15T=
XM_006723832.2:c.380-15T= XP_006723895.1:n.380-15T=
NM_020433.5:c.380-15T= MANE Select NP_065166.2:n.380-15T=
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