Canonical Allele Identifier: CA1040895

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.120005471T>C , CM000663.2:g.120005471T>C	GRCh38
NC_000001.10:g.120548094T>C , CM000663.1:g.120548094T>C	GRCh37
NG_008163.1:g.69183A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.273A>G MANE Select	NP_077719.2:p.Arg91=
ENST00000256646.7:c.273A>G MANE Select	ENSP00000256646.2:p.Arg91=
NM_001200001.1:c.273A>G	NP_001186930.1:p.Arg91=
NM_001200001.2:c.273A>G	NP_001186930.1:p.Arg91=
NM_024408.3:c.273A>G	NP_077719.2:p.Arg91=
ENST00000256646.6:c.273A>G	ENSP00000256646.2:p.Arg91=
ENST00000479412.2:n.411A>G
ENST00000489731.1:n.176A>G
ENST00000579475.7:c.156A>G	ENSP00000477065.2:p.Arg52=
ENST00000602566.5:c.156A>G	ENSP00000473427.1:p.Arg52=
ENST00000602566.6:c.156A>G	ENSP00000473427.2:p.Arg52=
ENST00000612822.1:c.156A>G	ENSP00000479088.1:p.Arg52=
ENST00000652264.1:c.156A>G	ENSP00000499006.1:p.Arg52=
ENST00000652302.1:c.273A>G	ENSP00000499202.1:p.Arg91=
XM_005270901.2:c.156A>G	XP_005270958.1:p.Arg52=
XM_011541519.1:c.261A>G	XP_011539821.1:p.Arg87=
XM_011541520.1:c.156A>G	XP_011539822.1:p.Arg52=