Canonical Allele Identifier: CA1040885

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.120005407G>A , CM000663.2:g.120005407G>A	GRCh38
NC_000001.10:g.120548030G>A , CM000663.1:g.120548030G>A	GRCh37
NG_008163.1:g.69247C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.337C>T MANE Select	NP_077719.2:p.Arg113Ter
ENST00000256646.7:c.337C>T MANE Select	ENSP00000256646.2:p.Arg113Ter
NM_001200001.1:c.337C>T	NP_001186930.1:p.Arg113Ter
NM_001200001.2:c.337C>T	NP_001186930.1:p.Arg113Ter
NM_024408.3:c.337C>T	NP_077719.2:p.Arg113Ter
ENST00000256646.6:c.337C>T	ENSP00000256646.2:p.Arg113Ter
ENST00000479412.2:n.475C>T
ENST00000489731.1:n.240C>T
ENST00000579475.7:c.220C>T	ENSP00000477065.2:p.Arg74Ter
ENST00000602566.5:c.220C>T	ENSP00000473427.1:p.Arg74Ter
ENST00000602566.6:c.220C>T	ENSP00000473427.2:p.Arg74Ter
ENST00000612822.1:c.220C>T	ENSP00000479088.1:p.Arg74Ter
ENST00000652264.1:c.220C>T	ENSP00000499006.1:p.Arg74Ter
ENST00000652302.1:c.337C>T	ENSP00000499202.1:p.Arg113Ter
XM_005270901.2:c.220C>T	XP_005270958.1:p.Arg74Ter
XM_011541519.1:c.325C>T	XP_011539821.1:p.Arg109Ter
XM_011541520.1:c.220C>T	XP_011539822.1:p.Arg74Ter