Canonical Allele Identifier: CA129222

Gene: JPH2

Linked Data

• ClinVar Variation Id: 30458
• ClinVar RCV Id: RCV000023411 ; RCV000082005 ; RCV000244391 ; RCV000205170 ; RCV001719698
• dbSNP Id: rs140740776
• ExAC: 20:42744802 C / T
• gnomAD v2: 20-42744802-C-T
• gnomAD v3: 20-44116162-C-T
• gnomAD v4: 20-44116162-C-T
• MyVariant Identifiers: chr20:g.42744802C>T (hg19) ; chr20:g.44116162C>T (hg38)
• PubMed: PMID:17476457 ; PMID:23757202 ; PMID:23891399 ; PMID:25333069 ; PMID:27532831

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44116162C>T , CM000682.2:g.44116162C>T	GRCh38
NC_000020.10:g.42744802C>T , CM000682.1:g.42744802C>T	GRCh37
NC_000020.9:g.42178216C>T	NCBI36
NG_031867.1:g.76417G>A , LRG_394:g.76417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1513G>A MANE Select	ENSP00000362071.3:p.Gly505Ser
ENST00000372980.3:c.1513G>A	ENSP00000362071.3:p.Gly505Ser
NM_020433.4:c.1513G>A , LRG_394t1:c.1513G>A	NP_065166.2:p.Gly505Ser
XM_006723832.2:c.1513G>A	XP_006723895.1:p.Gly505Ser
NM_020433.5:c.1513G>A MANE Select	NP_065166.2:p.Gly505Ser