Canonical Allele Identifier: CA391271478

Gene: JAG2

Linked Data

• gnomAD v4: 14-105150718-C-A
• MyVariant Identifiers: chr14:g.105617055C>A (hg19) ; chr14:g.105150718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105150718C>A , CM000676.2:g.105150718C>A	GRCh38
NC_000014.8:g.105617055C>A , CM000676.1:g.105617055C>A	GRCh37
NC_000014.7:g.104688100C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331782.8:c.1488G>T MANE Select	ENSP00000328169.3:p.Glu496Asp
ENST00000331782.7:c.1488G>T	ENSP00000328169.3:p.Glu496Asp
ENST00000347004.2:c.1374G>T	ENSP00000328566.2:p.Glu458Asp
NM_002226.4:c.1488G>T	NP_002217.3:p.Glu496Asp
NM_145159.2:c.1374G>T	NP_660142.1:p.Glu458Asp
XM_011536736.1:c.1488G>T	XP_011535038.1:p.Glu496Asp
XR_001750303.2:n.1549G>T
NM_002226.5:c.1488G>T MANE Select	NP_002217.3:p.Glu496Asp
NM_145159.3:c.1374G>T	NP_660142.1:p.Glu458Asp