Canonical Allele Identifier: CA510739191

Gene: JPH2

Linked Data

• dbSNP Id: rs2145879627
• gnomAD v4: 20-44160298-C-A
• MyVariant Identifiers: chr20:g.42788938C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160298C>A , CM000682.2:g.44160298C>A	GRCh38
NC_000020.10:g.42788938C>A , CM000682.1:g.42788938C>A	GRCh37
NC_000020.9:g.42222352C>A	NCBI36
NG_031867.1:g.32281G>T , LRG_394:g.32281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.489G>T MANE Select	ENSP00000362071.3:p.Leu163=
ENST00000372980.3:c.489G>T	ENSP00000362071.3:p.Leu163=
NM_020433.4:c.489G>T , LRG_394t1:c.489G>T	NP_065166.2:p.Leu163=
XM_006723832.2:c.489G>T	XP_006723895.1:p.Leu163=
NM_020433.5:c.489G>T MANE Select	NP_065166.2:p.Leu163=