Canonical Allele Identifier: CA2838464619

Gene: JPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118576del , CM000682.2:g.44118576del	GRCh38
NC_000020.10:g.42747216del , CM000682.1:g.42747216del	GRCh37
NC_000020.9:g.42180630del	NCBI36
NG_031867.1:g.74003del , LRG_394:g.74003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1217del MANE Select	ENSP00000362071.3:p.Leu406ArgfsTer?
ENST00000372980.3:c.1217del	ENSP00000362071.3:p.Leu406ArgfsTer?
NM_020433.4:c.1217del , LRG_394t1:c.1217del	NP_065166.2:p.Leu406ArgfsTer?
XM_006723832.2:c.1217del	XP_006723895.1:p.Leu406ArgfsTer?
NM_020433.5:c.1217del MANE Select	NP_065166.2:p.Leu406ArgfsTer?