Canonical Allele Identifier: CA341874938

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119965466G>T , CM000663.2:g.119965466G>T	GRCh38
NC_000001.10:g.120508089G>T , CM000663.1:g.120508089G>T	GRCh37
NC_000001.9:g.120309612G>T	NCBI36
NG_008163.1:g.109188C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.1668C>A MANE Select	NP_077719.2:p.Cys556Ter
ENST00000256646.7:c.1668C>A MANE Select	ENSP00000256646.2:p.Cys556Ter
NM_001200001.1:c.1668C>A	NP_001186930.1:p.Cys556Ter
NM_001200001.2:c.1668C>A	NP_001186930.1:p.Cys556Ter
NM_024408.3:c.1668C>A	NP_077719.2:p.Cys556Ter
ENST00000256646.6:c.1668C>A	ENSP00000256646.2:p.Cys556Ter
ENST00000479412.2:n.1806C>A
ENST00000579475.7:c.1551C>A	ENSP00000477065.2:p.Cys517Ter
ENST00000640021.1:c.888C>A	ENSP00000492223.1:n.888C>A
XM_005270901.2:c.1551C>A	XP_005270958.1:p.Cys517Ter
XM_011541519.1:c.1656C>A	XP_011539821.1:p.Cys552Ter
XM_011541520.1:c.1551C>A	XP_011539822.1:p.Cys517Ter