Canonical Allele Identifier: CA7386541
Gene: JAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 402990
ClinVar RCV Id: RCV000455499
dbSNP Id: rs587632836
ExAC: 14:105634706 C / CCAG
gnomAD v2: 14-105634706-C-CCAG
gnomAD v3: 14-105168369-C-CCAG
gnomAD v4: 14-105168369-C-CCAG
MyVariant Identifiers: chr14:g.105634709_105634710insCAG (hg19) chr14:g.105634706_105634707insCAG (hg19) chr14:g.105168372_105168373insCAG (hg38) chr14:g.105168369_105168370insCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105168383_105168385dup , CM000676.2:g.105168383_105168385dup GRCh38
NC_000014.8:g.105634720_105634722dup , CM000676.1:g.105634720_105634722dup GRCh37
NC_000014.7:g.104705765_104705767dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000331782.8:c.49_51dup MANE Select ENSP00000328169.3:p.Leu17_Ala18insLeu
ENST00000331782.7:c.49_51dup ENSP00000328169.3:p.Leu17_Ala18insLeu
ENST00000347004.2:c.49_51dup ENSP00000328566.2:p.Leu17_Ala18insLeu
NM_002226.4:c.49_51dup NP_002217.3:p.Leu17_Ala18insLeu
NM_145159.2:c.49_51dup NP_660142.1:p.Leu17_Ala18insLeu
XM_011536736.1:c.49_51dup XP_011535038.1:p.Leu17_Ala18insLeu
XR_001750303.2:n.110_112dup
NM_002226.5:c.49_51dup MANE Select NP_002217.3:p.Leu17_Ala18insLeu
NM_145159.3:c.49_51dup NP_660142.1:p.Leu17_Ala18insLeu
Search 100 bp 5'
Search 100 bp 3'