Canonical Allele Identifier: CA9868557

Gene: JPH2

Linked Data

• ClinVar Variation Id: 430124
• ClinVar RCV Id: RCV002420261 ; RCV002481570 ; RCV002527102
• dbSNP Id: rs111666278
• ExAC: 20:42744355 CCTT / C
• gnomAD v2: 20-42744355-CCTT-C
• gnomAD v3: 20-44115715-CCTT-C
• gnomAD v4: 20-44115715-CCTT-C
• MyVariant Identifiers: chr20:g.42744356_42744358del (hg19) ; chr20:g.44115717_44115719del (hg38) ; chr20:g.44115716_44115718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44115722_44115724del , CM000682.2:g.44115722_44115724del	GRCh38
NC_000020.10:g.42744362_42744364del , CM000682.1:g.42744362_42744364del	GRCh37
NC_000020.9:g.42177776_42177778del	NCBI36
NG_031867.1:g.76861_76863del , LRG_394:g.76861_76863del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.1957_1959del MANE Select	ENSP00000362071.3:p.Lys653del
ENST00000372980.3:c.1957_1959del	ENSP00000362071.3:p.Lys653del
NM_020433.4:c.1957_1959del , LRG_394t1:c.1957_1959del	NP_065166.2:p.Lys653del
XM_006723832.2:c.1957_1959del	XP_006723895.1:p.Lys653del
NM_020433.5:c.1957_1959del MANE Select	NP_065166.2:p.Lys653del