Canonical Allele Identifier: CA088112

Gene: JPH2

Linked Data

• ClinVar Variation Id: 222657
• ClinVar RCV Id: RCV000208272 ; RCV001572616 ; RCV002478749 ; RCV003298273
• dbSNP Id: rs199896820
• ExAC: 20:42747151 G / A
• gnomAD v2: 20-42747151-G-A
• gnomAD v3: 20-44118511-G-A
• gnomAD v4: 20-44118511-G-A
• MyVariant Identifiers: chr20:g.42747151G>A (hg19) ; chr20:g.44118511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118511G>A , CM000682.2:g.44118511G>A	GRCh38
NC_000020.10:g.42747151G>A , CM000682.1:g.42747151G>A	GRCh37
NC_000020.9:g.42180565G>A	NCBI36
NG_031867.1:g.74068C>T , LRG_394:g.74068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1282C>T MANE Select	ENSP00000362071.3:p.Gln428Ter
ENST00000372980.3:c.1282C>T	ENSP00000362071.3:p.Gln428Ter
NM_020433.4:c.1282C>T , LRG_394t1:c.1282C>T	NP_065166.2:p.Gln428Ter
XM_006723832.2:c.1282C>T	XP_006723895.1:p.Gln428Ter
NM_020433.5:c.1282C>T MANE Select	NP_065166.2:p.Gln428Ter