Canonical Allele Identifier: CA7385997

Gene: JAG2

Linked Data

• ClinVar Variation Id: 3112114
• ClinVar RCV Id: RCV004401042
• dbSNP Id: rs140376952
• ExAC: 14:105617081 G / A
• gnomAD v2: 14-105617081-G-A
• gnomAD v3: 14-105150744-G-A
• gnomAD v4: 14-105150744-G-A
• MyVariant Identifiers: chr14:g.105617081G>A (hg19) ; chr14:g.105150744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105150744G>A , CM000676.2:g.105150744G>A	GRCh38
NC_000014.8:g.105617081G>A , CM000676.1:g.105617081G>A	GRCh37
NC_000014.7:g.104688126G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331782.8:c.1462C>T MANE Select	ENSP00000328169.3:p.Arg488Trp
ENST00000331782.7:c.1462C>T	ENSP00000328169.3:p.Arg488Trp
ENST00000347004.2:c.1348C>T	ENSP00000328566.2:p.Arg450Trp
NM_002226.4:c.1462C>T	NP_002217.3:p.Arg488Trp
NM_145159.2:c.1348C>T	NP_660142.1:p.Arg450Trp
XM_011536736.1:c.1462C>T	XP_011535038.1:p.Arg488Trp
XR_001750303.2:n.1523C>T
NM_002226.5:c.1462C>T MANE Select	NP_002217.3:p.Arg488Trp
NM_145159.3:c.1348C>T	NP_660142.1:p.Arg450Trp