Canonical Allele Identifier: CA420037824

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120510099G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967476G>T , CM000663.2:g.119967476G>T	GRCh38
NC_000001.10:g.120510099G>T , CM000663.1:g.120510099G>T	GRCh37
NC_000001.9:g.120311622G>T	NCBI36
NG_008163.1:g.107178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1410C>A MANE Select	ENSP00000256646.2:p.Thr470=
ENST00000640021.1:c.630C>A	ENSP00000492223.1:n.630C>A
ENST00000256646.6:c.1410C>A	ENSP00000256646.2:p.Thr470=
ENST00000479412.2:n.1548C>A
ENST00000579475.7:c.1293C>A	ENSP00000477065.2:p.Thr431=
NM_001200001.1:c.1410C>A	NP_001186930.1:p.Thr470=
NM_024408.3:c.1410C>A	NP_077719.2:p.Thr470=
XM_005270901.2:c.1293C>A	XP_005270958.1:p.Thr431=
XM_011541519.1:c.1398C>A	XP_011539821.1:p.Thr466=
XM_011541520.1:c.1293C>A	XP_011539822.1:p.Thr431=
NM_024408.4:c.1410C>A MANE Select	NP_077719.2:p.Thr470=
NM_001200001.2:c.1410C>A	NP_001186930.1:p.Thr470=