Canonical Allele Identifier: CA391271523

Gene: JAG2

Linked Data

• gnomAD v4: 14-105150740-C-A
• MyVariant Identifiers: chr14:g.105617077C>A (hg19) ; chr14:g.105150740C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105150740C>A , CM000676.2:g.105150740C>A	GRCh38
NC_000014.8:g.105617077C>A , CM000676.1:g.105617077C>A	GRCh37
NC_000014.7:g.104688122C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331782.8:c.1466G>T MANE Select	ENSP00000328169.3:p.Gly489Val
ENST00000331782.7:c.1466G>T	ENSP00000328169.3:p.Gly489Val
ENST00000347004.2:c.1352G>T	ENSP00000328566.2:p.Gly451Val
NM_002226.4:c.1466G>T	NP_002217.3:p.Gly489Val
NM_145159.2:c.1352G>T	NP_660142.1:p.Gly451Val
XM_011536736.1:c.1466G>T	XP_011535038.1:p.Gly489Val
XR_001750303.2:n.1527G>T
NM_002226.5:c.1466G>T MANE Select	NP_002217.3:p.Gly489Val
NM_145159.3:c.1352G>T	NP_660142.1:p.Gly451Val