Canonical Allele Identifier: CA391271469
Gene: JAG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105150713T>G , CM000676.2:g.105150713T>G GRCh38
NC_000014.8:g.105617050T>G , CM000676.1:g.105617050T>G GRCh37
NC_000014.7:g.104688095T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000331782.8:c.1493A>C MANE Select ENSP00000328169.3:p.Glu498Ala
ENST00000331782.7:c.1493A>C ENSP00000328169.3:p.Glu498Ala
ENST00000347004.2:c.1379A>C ENSP00000328566.2:p.Glu460Ala
NM_002226.4:c.1493A>C NP_002217.3:p.Glu498Ala
NM_145159.2:c.1379A>C NP_660142.1:p.Glu460Ala
XM_011536736.1:c.1493A>C XP_011535038.1:p.Glu498Ala
XR_001750303.2:n.1554A>C
NM_002226.5:c.1493A>C MANE Select NP_002217.3:p.Glu498Ala
NM_145159.3:c.1379A>C NP_660142.1:p.Glu460Ala