Canonical Allele Identifier: CA1040652

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119969738A>T , CM000663.2:g.119969738A>T	GRCh38
NC_000001.10:g.120512361A>T , CM000663.1:g.120512361A>T	GRCh37
NC_000001.9:g.120313884A>T	NCBI36
NG_008163.1:g.104916T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.881T>A MANE Select	NP_077719.2:p.Phe294Tyr
ENST00000256646.7:c.881T>A MANE Select	ENSP00000256646.2:p.Phe294Tyr
NM_001200001.1:c.881T>A	NP_001186930.1:p.Phe294Tyr
NM_001200001.2:c.881T>A	NP_001186930.1:p.Phe294Tyr
NM_024408.3:c.881T>A	NP_077719.2:p.Phe294Tyr
ENST00000256646.6:c.881T>A	ENSP00000256646.2:p.Phe294Tyr
ENST00000479412.2:n.1019T>A
ENST00000579475.7:c.764T>A	ENSP00000477065.2:p.Phe255Tyr
ENST00000640021.1:c.101T>A	ENSP00000492223.1:n.101T>A
XM_005270901.2:c.764T>A	XP_005270958.1:p.Phe255Tyr
XM_011541519.1:c.869T>A	XP_011539821.1:p.Phe290Tyr
XM_011541520.1:c.764T>A	XP_011539822.1:p.Phe255Tyr