Canonical Allele Identifier: CA245390

Gene: JPH2

Linked Data

• ClinVar Variation Id: 197322
• ClinVar RCV Id: RCV000178322 ; RCV000607692 ; RCV000617546 ; RCV000724582 ; RCV001089382 ; RCV003927660
• dbSNP Id: rs531877510
• ExAC: 20:42744935 C / T
• gnomAD v2: 20-42744935-C-T
• gnomAD v3: 20-44116295-C-T
• gnomAD v4: 20-44116295-C-T
• MyVariant Identifiers: chr20:g.42744935C>T (hg19) ; chr20:g.44116295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44116295C>T , CM000682.2:g.44116295C>T	GRCh38
NC_000020.10:g.42744935C>T , CM000682.1:g.42744935C>T	GRCh37
NC_000020.9:g.42178349C>T	NCBI36
NG_031867.1:g.76284G>A , LRG_394:g.76284G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.1380G>A MANE Select	ENSP00000362071.3:p.Ala460=
ENST00000372980.3:c.1380G>A	ENSP00000362071.3:p.Ala460=
NM_020433.4:c.1380G>A , LRG_394t1:c.1380G>A	NP_065166.2:p.Ala460=
XM_006723832.2:c.1380G>A	XP_006723895.1:p.Ala460=
NM_020433.5:c.1380G>A MANE Select	NP_065166.2:p.Ala460=