Canonical Allele Identifier: CA1040217

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119948406A>G , CM000663.2:g.119948406A>G	GRCh38
NC_000001.10:g.120491029A>G , CM000663.1:g.120491029A>G	GRCh37
NC_000001.9:g.120292552A>G	NCBI36
NG_008163.1:g.126248T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.2752+8T>C MANE Select	NP_077719.2:n.2752+8T>C
ENST00000256646.7:c.2752+8T>C MANE Select	ENSP00000256646.2:n.2752+8T>C
NM_001200001.1:c.2752+8T>C	NP_001186930.1:n.2752+8T>C
NM_001200001.2:c.2752+8T>C	NP_001186930.1:n.2752+8T>C
NM_024408.3:c.2752+8T>C	NP_077719.2:n.2752+8T>C
ENST00000256646.6:c.2752+8T>C	ENSP00000256646.2:n.2752+8T>C
XM_005270901.2:c.2635+8T>C	XP_005270958.1:n.2635+8T>C
XM_011541519.1:c.2740+8T>C	XP_011539821.1:n.2740+8T>C
XM_011541520.1:c.2635+8T>C	XP_011539822.1:n.2635+8T>C