Canonical Allele Identifier: CA1040836

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119997293G>A , CM000663.2:g.119997293G>A	GRCh38
NC_000001.10:g.120539916G>A , CM000663.1:g.120539916G>A	GRCh37
NG_008163.1:g.77361C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.455C>T MANE Select	ENSP00000256646.2:p.Pro152Leu
ENST00000602566.6:c.338C>T	ENSP00000473427.2:p.Pro113Leu
ENST00000652264.1:c.338C>T	ENSP00000499006.1:p.Pro113Leu
ENST00000652302.1:c.455C>T	ENSP00000499202.1:p.Pro152Leu
ENST00000256646.6:c.455C>T	ENSP00000256646.2:p.Pro152Leu
ENST00000479412.2:n.593C>T
ENST00000579475.7:c.338C>T	ENSP00000477065.2:p.Pro113Leu
ENST00000602566.5:c.338C>T	ENSP00000473427.1:p.Pro113Leu
ENST00000612822.1:c.338C>T	ENSP00000479088.1:p.Pro113Leu
NM_001200001.1:c.455C>T	NP_001186930.1:p.Pro152Leu
NM_024408.3:c.455C>T	NP_077719.2:p.Pro152Leu
XM_005270901.2:c.338C>T	XP_005270958.1:p.Pro113Leu
XM_011541519.1:c.443C>T	XP_011539821.1:p.Pro148Leu
XM_011541520.1:c.338C>T	XP_011539822.1:p.Pro113Leu
NM_024408.4:c.455C>T MANE Select	NP_077719.2:p.Pro152Leu
NM_001200001.2:c.455C>T	NP_001186930.1:p.Pro152Leu