Canonical Allele Identifier: CA2652956560

Gene: JPH2

Linked Data

• gnomAD v4: 20-44160291-GGGACGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160292_44160298del , CM000682.2:g.44160292_44160298del	GRCh38
NC_000020.10:g.42788932_42788938del , CM000682.1:g.42788932_42788938del	GRCh37
NC_000020.9:g.42222346_42222352del	NCBI36
NG_031867.1:g.32281_32287del , LRG_394:g.32281_32287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.489_495del MANE Select	ENSP00000362071.3:p.Ser164CysfsTer?
ENST00000372980.3:c.489_495del	ENSP00000362071.3:p.Ser164CysfsTer?
NM_020433.4:c.489_495del , LRG_394t1:c.489_495del	NP_065166.2:p.Ser164CysfsTer?
XM_006723832.2:c.489_495del	XP_006723895.1:p.Ser164CysfsTer?
NM_020433.5:c.489_495del MANE Select	NP_065166.2:p.Ser164CysfsTer?