Canonical Allele Identifier: CA16616217

Gene: JPH2

Linked Data

• ClinVar Variation Id: 403852
• ClinVar RCV Id: RCV000472850
• dbSNP Id: rs1555853257
• MyVariant Identifiers: chr20:g.42744350_42744367dup18 (hg19) ; chr20:g.42744349_42744350insCCGCGCCTTCTTCTTGGC (hg19) ; chr20:g.44115710_44115727dup18 (hg38) ; chr20:g.44115709_44115710insCCGCGCCTTCTTCTTGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44115712_44115729dup , CM000682.2:g.44115712_44115729dup	GRCh38
NC_000020.10:g.42744352_42744369dup , CM000682.1:g.42744352_42744369dup	GRCh37
NC_000020.9:g.42177766_42177783dup	NCBI36
NG_031867.1:g.76852_76869dup , LRG_394:g.76852_76869dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1948_1965dup MANE Select	ENSP00000362071.3:p.Arg655_Lys656insAlaLysLysLysAlaArg
ENST00000372980.3:c.1948_1965dup	ENSP00000362071.3:p.Arg655_Lys656insAlaLysLysLysAlaArg
NM_020433.4:c.1948_1965dup , LRG_394t1:c.1948_1965dup	NP_065166.2:p.Arg655_Lys656insAlaLysLysLysAlaArg
XM_006723832.2:c.1948_1965dup	XP_006723895.1:p.Arg655_Lys656insAlaLysLysLysAlaArg
NM_020433.5:c.1948_1965dup MANE Select	NP_065166.2:p.Arg655_Lys656insAlaLysLysLysAlaArg