Canonical Allele Identifier: CA333092

Gene: JPH2

Linked Data

• ClinVar Variation Id: 137606
• ClinVar RCV Id: RCV000125445 ; RCV000246318 ; RCV000625201 ; RCV000860439
• dbSNP Id: rs7268512
• ExAC: 20:42747254 G / A
• gnomAD v2: 20-42747254-G-A
• gnomAD v3: 20-44118614-G-A
• gnomAD v4: 20-44118614-G-A
• MyVariant Identifiers: chr20:g.42747254G>A (hg19) ; chr20:g.44118614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118614G>A , CM000682.2:g.44118614G>A	GRCh38
NC_000020.10:g.42747254G>A , CM000682.1:g.42747254G>A	GRCh37
NC_000020.9:g.42180668G>A	NCBI36
NG_031867.1:g.73965C>T , LRG_394:g.73965C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.1179C>T MANE Select	ENSP00000362071.3:p.His393=
ENST00000372980.3:c.1179C>T	ENSP00000362071.3:p.His393=
NM_020433.4:c.1179C>T , LRG_394t1:c.1179C>T	NP_065166.2:p.His393=
XM_006723832.2:c.1179C>T	XP_006723895.1:p.His393=
NM_020433.5:c.1179C>T MANE Select	NP_065166.2:p.His393=