Canonical Allele Identifier: CA2696784974

Gene: NOTCH2

Linked Data

• dbSNP Id: rs1391853532

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967375A>T , CM000663.2:g.119967375A>T	GRCh38
NC_000001.10:g.120509998A>T , CM000663.1:g.120509998A>T	GRCh37
NC_000001.9:g.120311521A>T	NCBI36
NG_008163.1:g.107279T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1453+58T>A MANE Select	ENSP00000256646.2:n.1453+58T>A
ENST00000640021.1:c.673+58T>A	ENSP00000492223.1:n.673+58T>A
ENST00000256646.6:c.1453+58T>A	ENSP00000256646.2:n.1453+58T>A
ENST00000479412.2:n.1591+58T>A
ENST00000579475.7:c.1336+58T>A	ENSP00000477065.2:n.1336+58T>A
NM_001200001.1:c.1453+58T>A	NP_001186930.1:n.1453+58T>A
NM_024408.3:c.1453+58T>A	NP_077719.2:n.1453+58T>A
XM_005270901.2:c.1336+58T>A	XP_005270958.1:n.1336+58T>A
XM_011541519.1:c.1441+58T>A	XP_011539821.1:n.1441+58T>A
XM_011541520.1:c.1336+58T>A	XP_011539822.1:n.1336+58T>A
NM_024408.4:c.1453+58T>A MANE Select	NP_077719.2:n.1453+58T>A
NM_001200001.2:c.1453+58T>A	NP_001186930.1:n.1453+58T>A