Canonical Allele Identifier: CA341872317
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458085C>A (hg19) chr1:g.119915462C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915462C>A , CM000663.2:g.119915462C>A GRCh38
NC_000001.10:g.120458085C>A , CM000663.1:g.120458085C>A GRCh37
NC_000001.9:g.120259608C>A NCBI36
NG_008163.1:g.159192G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7260G>T MANE Select ENSP00000256646.2:p.Glu2420Asp
ENST00000256646.6:c.7260G>T ENSP00000256646.2:p.Glu2420Asp
NM_024408.3:c.7260G>T NP_077719.2:p.Glu2420Asp
XM_005270901.2:c.7143G>T XP_005270958.1:p.Glu2381Asp
XM_011541519.1:c.7248G>T XP_011539821.1:p.Glu2416Asp
XM_011541520.1:c.7143G>T XP_011539822.1:p.Glu2381Asp
NM_024408.4:c.7260G>T MANE Select NP_077719.2:p.Glu2420Asp
Search 100 bp 5'
Search 100 bp 3'