Canonical Allele Identifier: CA2839482614

Gene: JPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118566dup , CM000682.2:g.44118566dup	GRCh38
NC_000020.10:g.42747206dup , CM000682.1:g.42747206dup	GRCh37
NC_000020.9:g.42180620dup	NCBI36
NG_031867.1:g.74014dup , LRG_394:g.74014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1228dup MANE Select	ENSP00000362071.3:p.Gln410ProfsTer?
ENST00000372980.3:c.1228dup	ENSP00000362071.3:p.Gln410ProfsTer?
NM_020433.4:c.1228dup , LRG_394t1:c.1228dup	NP_065166.2:p.Gln410ProfsTer?
XM_006723832.2:c.1228dup	XP_006723895.1:p.Gln410ProfsTer?
NM_020433.5:c.1228dup MANE Select	NP_065166.2:p.Gln410ProfsTer?