Canonical Allele Identifier: CA2365626446

Gene: JPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118514A= , CM000682.2:g.44118514A=	GRCh38
NC_000020.10:g.42747154A= , CM000682.1:g.42747154A=	GRCh37
NC_000020.9:g.42180568A=	NCBI36
NG_031867.1:g.74065T= , LRG_394:g.74065T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.1279T= MANE Select	ENSP00000362071.3:p.Tyr427=
ENST00000372980.3:c.1279T=	ENSP00000362071.3:p.Tyr427=
NM_020433.4:c.1279T= , LRG_394t1:c.1279T=	NP_065166.2:p.Tyr427=
XM_006723832.2:c.1279T=	XP_006723895.1:p.Tyr427=
NM_020433.5:c.1279T= MANE Select	NP_065166.2:p.Tyr427=