Canonical Allele Identifier: CA10587928

Gene: JPH2

Linked Data

• ClinVar Variation Id: 264069
• ClinVar RCV Id: RCV000252748 ; RCV000614550 ; RCV000553301 ; RCV001594927 ; RCV001698664
• dbSNP Id: rs796219248
• gnomAD v2: 20-42788779-C-T
• gnomAD v3: 20-44160139-C-T
• gnomAD v4: 20-44160139-C-T
• MyVariant Identifiers: chr20:g.42788779C>T (hg19) ; chr20:g.44160139C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160139C>T , CM000682.2:g.44160139C>T	GRCh38
NC_000020.10:g.42788779C>T , CM000682.1:g.42788779C>T	GRCh37
NC_000020.9:g.42222193C>T	NCBI36
NG_031867.1:g.32440G>A , LRG_394:g.32440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.648G>A MANE Select	ENSP00000362071.3:p.Lys216=
ENST00000372980.3:c.648G>A	ENSP00000362071.3:p.Lys216=
NM_020433.4:c.648G>A , LRG_394t1:c.648G>A	NP_065166.2:p.Lys216=
XM_006723832.2:c.648G>A	XP_006723895.1:p.Lys216=
NM_020433.5:c.648G>A MANE Select	NP_065166.2:p.Lys216=