Canonical Allele Identifier: CA341849570

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.120029976G>A , CM000663.2:g.120029976G>A	GRCh38
NC_000001.10:g.120572599G>A , CM000663.1:g.120572599G>A	GRCh37
NG_008163.1:g.44678C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.85C>T MANE Select	NP_077719.2:p.Arg29Ter
ENST00000256646.7:c.85C>T MANE Select	ENSP00000256646.2:p.Arg29Ter
NM_001200001.1:c.85C>T	NP_001186930.1:p.Arg29Ter
NM_001200001.2:c.85C>T	NP_001186930.1:p.Arg29Ter
NM_024408.3:c.85C>T	NP_077719.2:p.Arg29Ter
ENST00000256646.6:c.85C>T	ENSP00000256646.2:p.Arg29Ter
ENST00000479412.2:n.294-24388C>T
ENST00000579475.7:c.-33C>T	ENSP00000477065.2:n.-33C>T
ENST00000602566.5:c.-33C>T	ENSP00000473427.1:n.-33C>T
ENST00000602566.6:c.-33C>T	ENSP00000473427.2:n.-33C>T
ENST00000612822.1:c.-33C>T	ENSP00000479088.1:n.-33C>T
ENST00000651371.1:c.338C>T
ENST00000652264.1:c.-33C>T	ENSP00000499006.1:n.-33C>T
ENST00000652302.1:c.85C>T	ENSP00000499202.1:p.Arg29Ter
ENST00000652737.1:c.-33C>T	ENSP00000499040.1:n.-33C>T
XM_005270901.2:c.-33C>T	XP_005270958.1:n.-33C>T
XM_011541519.1:c.73C>T	XP_011539821.1:p.Arg25Ter
XM_011541520.1:c.-33C>T	XP_011539822.1:n.-33C>T