Canonical Allele Identifier: CA391271489

Gene: JAG2

Linked Data

• gnomAD v4: 14-105150722-C-T
• MyVariant Identifiers: chr14:g.105617059C>T (hg19) ; chr14:g.105150722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105150722C>T , CM000676.2:g.105150722C>T	GRCh38
NC_000014.8:g.105617059C>T , CM000676.1:g.105617059C>T	GRCh37
NC_000014.7:g.104688104C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331782.8:c.1484G>A MANE Select	ENSP00000328169.3:p.Cys495Tyr
ENST00000331782.7:c.1484G>A	ENSP00000328169.3:p.Cys495Tyr
ENST00000347004.2:c.1370G>A	ENSP00000328566.2:p.Cys457Tyr
NM_002226.4:c.1484G>A	NP_002217.3:p.Cys495Tyr
NM_145159.2:c.1370G>A	NP_660142.1:p.Cys457Tyr
XM_011536736.1:c.1484G>A	XP_011535038.1:p.Cys495Tyr
XR_001750303.2:n.1545G>A
NM_002226.5:c.1484G>A MANE Select	NP_002217.3:p.Cys495Tyr
NM_145159.3:c.1370G>A	NP_660142.1:p.Cys457Tyr