Canonical Allele Identifier: CA391271473

Gene: JAG2

Linked Data

• MyVariant Identifiers: chr14:g.105617053A>C (hg19) ; chr14:g.105150716A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105150716A>C , CM000676.2:g.105150716A>C	GRCh38
NC_000014.8:g.105617053A>C , CM000676.1:g.105617053A>C	GRCh37
NC_000014.7:g.104688098A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331782.8:c.1490T>G MANE Select	ENSP00000328169.3:p.Leu497Arg
ENST00000331782.7:c.1490T>G	ENSP00000328169.3:p.Leu497Arg
ENST00000347004.2:c.1376T>G	ENSP00000328566.2:p.Leu459Arg
NM_002226.4:c.1490T>G	NP_002217.3:p.Leu497Arg
NM_145159.2:c.1376T>G	NP_660142.1:p.Leu459Arg
XM_011536736.1:c.1490T>G	XP_011535038.1:p.Leu497Arg
XR_001750303.2:n.1551T>G
NM_002226.5:c.1490T>G MANE Select	NP_002217.3:p.Leu497Arg
NM_145159.3:c.1376T>G	NP_660142.1:p.Leu459Arg