Canonical Allele Identifier: CA1040540

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119966500C>A , CM000663.2:g.119966500C>A	GRCh38
NC_000001.10:g.120509123C>A , CM000663.1:g.120509123C>A	GRCh37
NC_000001.9:g.120310646C>A	NCBI36
NG_008163.1:g.108154G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.1454-11G>T MANE Select	NP_077719.2:n.1454-11G>T
ENST00000256646.7:c.1454-11G>T MANE Select	ENSP00000256646.2:n.1454-11G>T
NM_001200001.1:c.1454-11G>T	NP_001186930.1:n.1454-11G>T
NM_001200001.2:c.1454-11G>T	NP_001186930.1:n.1454-11G>T
NM_024408.3:c.1454-11G>T	NP_077719.2:n.1454-11G>T
ENST00000256646.6:c.1454-11G>T	ENSP00000256646.2:n.1454-11G>T
ENST00000479412.2:n.1592-11G>T
ENST00000579475.7:c.1337-11G>T	ENSP00000477065.2:n.1337-11G>T
ENST00000640021.1:c.674-11G>T	ENSP00000492223.1:n.674-11G>T
XM_005270901.2:c.1337-11G>T	XP_005270958.1:n.1337-11G>T
XM_011541519.1:c.1442-11G>T	XP_011539821.1:n.1442-11G>T
XM_011541520.1:c.1337-11G>T	XP_011539822.1:n.1337-11G>T