Canonical Allele Identifier: CA510739203

Gene: JPH2

Linked Data

• dbSNP Id: rs746384802
• gnomAD v4: 20-44160304-C-A
• MyVariant Identifiers: chr20:g.42788944C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160304C>A , CM000682.2:g.44160304C>A	GRCh38
NC_000020.10:g.42788944C>A , CM000682.1:g.42788944C>A	GRCh37
NC_000020.9:g.42222358C>A	NCBI36
NG_031867.1:g.32275G>T , LRG_394:g.32275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.483G>T MANE Select	ENSP00000362071.3:p.Thr161=
ENST00000372980.3:c.483G>T	ENSP00000362071.3:p.Thr161=
NM_020433.4:c.483G>T , LRG_394t1:c.483G>T	NP_065166.2:p.Thr161=
XM_006723832.2:c.483G>T	XP_006723895.1:p.Thr161=
NM_020433.5:c.483G>T MANE Select	NP_065166.2:p.Thr161=