Canonical Allele Identifier: CA2842753470

Gene: JPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118457A>T , CM000682.2:g.44118457A>T	GRCh38
NC_000020.10:g.42747097A>T , CM000682.1:g.42747097A>T	GRCh37
NC_000020.9:g.42180511A>T	NCBI36
NG_031867.1:g.74122T>A , LRG_394:g.74122T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1288+48T>A MANE Select	ENSP00000362071.3:n.1288+48T>A
ENST00000372980.3:c.1288+48T>A	ENSP00000362071.3:n.1288+48T>A
NM_020433.4:c.1288+48T>A , LRG_394t1:c.1288+48T>A	NP_065166.2:n.1288+48T>A
XM_006723832.2:c.1288+48T>A	XP_006723895.1:n.1288+48T>A
NM_020433.5:c.1288+48T>A MANE Select	NP_065166.2:n.1288+48T>A