Canonical Allele Identifier: CA2555610054

Gene: JPH2

Genomic Alleles

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

Transcript Alleles

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