Canonical Allele Identifier: CA267398493

Gene: JAG2

Linked Data

• dbSNP Id: rs893516397
• gnomAD v4: 14-105150715-C-T
• MyVariant Identifiers: chr14:g.105617052C>T (hg19) ; chr14:g.105150715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105150715C>T , CM000676.2:g.105150715C>T	GRCh38
NC_000014.8:g.105617052C>T , CM000676.1:g.105617052C>T	GRCh37
NC_000014.7:g.104688097C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331782.8:c.1491G>A MANE Select	ENSP00000328169.3:p.Leu497=
ENST00000331782.7:c.1491G>A	ENSP00000328169.3:p.Leu497=
ENST00000347004.2:c.1377G>A	ENSP00000328566.2:p.Leu459=
NM_002226.4:c.1491G>A	NP_002217.3:p.Leu497=
NM_145159.2:c.1377G>A	NP_660142.1:p.Leu459=
XM_011536736.1:c.1491G>A	XP_011535038.1:p.Leu497=
XR_001750303.2:n.1552G>A
NM_002226.5:c.1491G>A MANE Select	NP_002217.3:p.Leu497=
NM_145159.3:c.1377G>A	NP_660142.1:p.Leu459=