Canonical Allele Identifier: CA7385990
Gene: JAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3029553
ClinVar RCV Id: RCV003896653
dbSNP Id: rs770756112
ExAC: 14:105617054 G / A
gnomAD v2: 14-105617054-G-A
gnomAD v3: 14-105150717-G-A
gnomAD v4: 14-105150717-G-A
MyVariant Identifiers: chr14:g.105617054G>A (hg19) chr14:g.105150717G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105150717G>A , CM000676.2:g.105150717G>A GRCh38
NC_000014.8:g.105617054G>A , CM000676.1:g.105617054G>A GRCh37
NC_000014.7:g.104688099G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000331782.8:c.1489C>T MANE Select ENSP00000328169.3:p.Leu497=
ENST00000331782.7:c.1489C>T ENSP00000328169.3:p.Leu497=
ENST00000347004.2:c.1375C>T ENSP00000328566.2:p.Leu459=
NM_002226.4:c.1489C>T NP_002217.3:p.Leu497=
NM_145159.2:c.1375C>T NP_660142.1:p.Leu459=
XM_011536736.1:c.1489C>T XP_011535038.1:p.Leu497=
XR_001750303.2:n.1550C>T
NM_002226.5:c.1489C>T MANE Select NP_002217.3:p.Leu497=
NM_145159.3:c.1375C>T NP_660142.1:p.Leu459=
Search 100 bp 5'
Search 100 bp 3'