Canonical Allele Identifier: CA2839510850

Gene: JPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118665G>T , CM000682.2:g.44118665G>T	GRCh38
NC_000020.10:g.42747305G>T , CM000682.1:g.42747305G>T	GRCh37
NC_000020.9:g.42180719G>T	NCBI36
NG_031867.1:g.73914C>A , LRG_394:g.73914C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1170-42C>A MANE Select	ENSP00000362071.3:n.1170-42C>A
ENST00000372980.3:c.1170-42C>A	ENSP00000362071.3:n.1170-42C>A
NM_020433.4:c.1170-42C>A , LRG_394t1:c.1170-42C>A	NP_065166.2:n.1170-42C>A
XM_006723832.2:c.1170-42C>A	XP_006723895.1:n.1170-42C>A
NM_020433.5:c.1170-42C>A MANE Select	NP_065166.2:n.1170-42C>A