Canonical Allele Identifier: CA341851613

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119935561T>A , CM000663.2:g.119935561T>A	GRCh38
NC_000001.10:g.120478184T>A , CM000663.1:g.120478184T>A	GRCh37
NC_000001.9:g.120279707T>A	NCBI36
NG_008163.1:g.139093A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.3566A>T MANE Select	NP_077719.2:p.Asp1189Val
ENST00000256646.7:c.3566A>T MANE Select	ENSP00000256646.2:p.Asp1189Val
NM_001200001.1:c.3566A>T	NP_001186930.1:p.Asp1189Val
NM_001200001.2:c.3566A>T	NP_001186930.1:p.Asp1189Val
NM_024408.3:c.3566A>T	NP_077719.2:p.Asp1189Val
ENST00000256646.6:c.3566A>T	ENSP00000256646.2:p.Asp1189Val
ENST00000478864.1:n.226A>T
XM_005270901.2:c.3449A>T	XP_005270958.1:p.Asp1150Val
XM_011541519.1:c.3554A>T	XP_011539821.1:p.Asp1185Val
XM_011541520.1:c.3449A>T	XP_011539822.1:p.Asp1150Val