Canonical Allele Identifier: CA420039762

Gene: NOTCH2

Linked Data

• gnomAD v4: 1-119969563-G-A
• MyVariant Identifiers: chr1:g.120512186G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119969563G>A , CM000663.2:g.119969563G>A	GRCh38
NC_000001.10:g.120512186G>A , CM000663.1:g.120512186G>A	GRCh37
NC_000001.9:g.120313709G>A	NCBI36
NG_008163.1:g.105091C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.1056C>T MANE Select	ENSP00000256646.2:p.Thr352=
ENST00000640021.1:c.276C>T	ENSP00000492223.1:n.276C>T
ENST00000256646.6:c.1056C>T	ENSP00000256646.2:p.Thr352=
ENST00000479412.2:n.1194C>T
ENST00000579475.7:c.939C>T	ENSP00000477065.2:p.Thr313=
NM_001200001.1:c.1056C>T	NP_001186930.1:p.Thr352=
NM_024408.3:c.1056C>T	NP_077719.2:p.Thr352=
XM_005270901.2:c.939C>T	XP_005270958.1:p.Thr313=
XM_011541519.1:c.1044C>T	XP_011539821.1:p.Thr348=
XM_011541520.1:c.939C>T	XP_011539822.1:p.Thr313=
NM_024408.4:c.1056C>T MANE Select	NP_077719.2:p.Thr352=
NM_001200001.2:c.1056C>T	NP_001186930.1:p.Thr352=