Canonical Allele Identifier: CA2696934569
Gene: NOTCH2 HGNC NCBI

Linked Data

dbSNP Id: rs2101158874

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119975486A>T , CM000663.2:g.119975486A>T GRCh38
NC_000001.10:g.120518109A>T , CM000663.1:g.120518109A>T GRCh37
NC_000001.9:g.120319632A>T NCBI36
NG_008163.1:g.99168T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.875-5742T>A MANE Select ENSP00000256646.2:n.875-5742T>A
ENST00000640021.1:c.94+864T>A ENSP00000492223.1:n.94+864T>A
ENST00000256646.6:c.875-5742T>A ENSP00000256646.2:n.875-5742T>A
ENST00000479412.2:n.1013-5742T>A
ENST00000579475.7:c.758-5742T>A ENSP00000477065.2:n.758-5742T>A
NM_001200001.1:c.875-5742T>A NP_001186930.1:n.875-5742T>A
NM_024408.3:c.875-5742T>A NP_077719.2:n.875-5742T>A
XM_005270901.2:c.758-5742T>A XP_005270958.1:n.758-5742T>A
XM_011541519.1:c.863-5742T>A XP_011539821.1:n.863-5742T>A
XM_011541520.1:c.758-5742T>A XP_011539822.1:n.758-5742T>A
NM_024408.4:c.875-5742T>A MANE Select NP_077719.2:n.875-5742T>A
NM_001200001.2:c.875-5742T>A NP_001186930.1:n.875-5742T>A