Canonical Allele Identifier: CA333088

Gene: JPH2

Linked Data

• ClinVar Variation Id: 137604
• ClinVar RCV Id: RCV000125443 ; RCV000205602 ; RCV000606774
• dbSNP Id: rs201197277
• ExAC: 20:42789053 G / A
• gnomAD v2: 20-42789053-G-A
• gnomAD v3: 20-44160413-G-A
• gnomAD v4: 20-44160413-G-A
• MyVariant Identifiers: chr20:g.42789053G>A (hg19) ; chr20:g.44160413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160413G>A , CM000682.2:g.44160413G>A	GRCh38
NC_000020.10:g.42789053G>A , CM000682.1:g.42789053G>A	GRCh37
NC_000020.9:g.42222467G>A	NCBI36
NG_031867.1:g.32166C>T , LRG_394:g.32166C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.380-6C>T MANE Select	ENSP00000362071.3:n.380-6C>T
ENST00000372980.3:c.380-6C>T	ENSP00000362071.3:n.380-6C>T
NM_020433.4:c.380-6C>T , LRG_394t1:c.380-6C>T	NP_065166.2:n.380-6C>T
XM_006723832.2:c.380-6C>T	XP_006723895.1:n.380-6C>T
NM_020433.5:c.380-6C>T MANE Select	NP_065166.2:n.380-6C>T