Canonical Allele Identifier: CA1040205

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119941798G>A , CM000663.2:g.119941798G>A	GRCh38
NC_000001.10:g.120484421G>A , CM000663.1:g.120484421G>A	GRCh37
NC_000001.9:g.120285944G>A	NCBI36
NG_008163.1:g.132856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.2753-44C>T MANE Select	ENSP00000256646.2:n.2753-44C>T
ENST00000256646.6:c.2753-44C>T	ENSP00000256646.2:n.2753-44C>T
NM_001200001.1:c.2753-44C>T	NP_001186930.1:n.2753-44C>T
NM_024408.3:c.2753-44C>T	NP_077719.2:n.2753-44C>T
XM_005270901.2:c.2636-44C>T	XP_005270958.1:n.2636-44C>T
XM_011541519.1:c.2741-44C>T	XP_011539821.1:n.2741-44C>T
XM_011541520.1:c.2636-44C>T	XP_011539822.1:n.2636-44C>T
NM_024408.4:c.2753-44C>T MANE Select	NP_077719.2:n.2753-44C>T
NM_001200001.2:c.2753-44C>T	NP_001186930.1:n.2753-44C>T