Canonical Allele Identifier: CA1040491

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119965499T>C , CM000663.2:g.119965499T>C	GRCh38
NC_000001.10:g.120508122T>C , CM000663.1:g.120508122T>C	GRCh37
NC_000001.9:g.120309645T>C	NCBI36
NG_008163.1:g.109155A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.1635A>G MANE Select	NP_077719.2:p.Ala545=
ENST00000256646.7:c.1635A>G MANE Select	ENSP00000256646.2:p.Ala545=
NM_001200001.1:c.1635A>G	NP_001186930.1:p.Ala545=
NM_001200001.2:c.1635A>G	NP_001186930.1:p.Ala545=
NM_024408.3:c.1635A>G	NP_077719.2:p.Ala545=
ENST00000256646.6:c.1635A>G	ENSP00000256646.2:p.Ala545=
ENST00000479412.2:n.1773A>G
ENST00000579475.7:c.1518A>G	ENSP00000477065.2:p.Ala506=
ENST00000640021.1:c.855A>G	ENSP00000492223.1:n.855A>G
XM_005270901.2:c.1518A>G	XP_005270958.1:p.Ala506=
XM_011541519.1:c.1623A>G	XP_011539821.1:p.Ala541=
XM_011541520.1:c.1518A>G	XP_011539822.1:p.Ala506=