Canonical Allele Identifier: CA9868598

Gene: JPH2

Linked Data

• ClinVar Variation Id: 518802
• ClinVar RCV Id: RCV000617815 ; RCV000868166
• dbSNP Id: rs199845988
• ExAC: 20:42744507 G / A
• gnomAD v2: 20-42744507-G-A
• gnomAD v3: 20-44115867-G-A
• gnomAD v4: 20-44115867-G-A
• MyVariant Identifiers: chr20:g.42744507G>A (hg19) ; chr20:g.44115867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44115867G>A , CM000682.2:g.44115867G>A	GRCh38
NC_000020.10:g.42744507G>A , CM000682.1:g.42744507G>A	GRCh37
NC_000020.9:g.42177921G>A	NCBI36
NG_031867.1:g.76712C>T , LRG_394:g.76712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1808C>T MANE Select	ENSP00000362071.3:p.Pro603Leu
ENST00000372980.3:c.1808C>T	ENSP00000362071.3:p.Pro603Leu
NM_020433.4:c.1808C>T , LRG_394t1:c.1808C>T	NP_065166.2:p.Pro603Leu
XM_006723832.2:c.1808C>T	XP_006723895.1:p.Pro603Leu
NM_020433.5:c.1808C>T MANE Select	NP_065166.2:p.Pro603Leu