Canonical Allele Identifier: CA1040389

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119955196G>A , CM000663.2:g.119955196G>A	GRCh38
NC_000001.10:g.120497819G>A , CM000663.1:g.120497819G>A	GRCh37
NC_000001.9:g.120299342G>A	NCBI36
NG_008163.1:g.119458C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.2063C>T MANE Select	NP_077719.2:p.Ser688Phe
ENST00000256646.7:c.2063C>T MANE Select	ENSP00000256646.2:p.Ser688Phe
NM_001200001.1:c.2063C>T	NP_001186930.1:p.Ser688Phe
NM_001200001.2:c.2063C>T	NP_001186930.1:p.Ser688Phe
NM_024408.3:c.2063C>T	NP_077719.2:p.Ser688Phe
ENST00000256646.6:c.2063C>T	ENSP00000256646.2:p.Ser688Phe
ENST00000479412.2:n.2201C>T
ENST00000579475.7:c.1946C>T	ENSP00000477065.2:p.Ser649Phe
ENST00000640021.1:c.1283C>T	ENSP00000492223.1:n.1283C>T
XM_005270901.2:c.1946C>T	XP_005270958.1:p.Ser649Phe
XM_011541519.1:c.2051C>T	XP_011539821.1:p.Ser684Phe
XM_011541520.1:c.1946C>T	XP_011539822.1:p.Ser649Phe