Canonical Allele Identifier: CA1040561

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 463169
• ClinVar RCV Id: RCV000592374 ; RCV000539468 ; RCV001729628
• dbSNP Id: rs199565938
• ExAC: 1:120510194 C / T
• gnomAD v2: 1-120510194-C-T
• gnomAD v3: 1-119967571-C-T
• gnomAD v4: 1-119967571-C-T
• MyVariant Identifiers: chr1:g.120510194C>T (hg19) ; chr1:g.119967571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967571C>T , CM000663.2:g.119967571C>T	GRCh38
NC_000001.10:g.120510194C>T , CM000663.1:g.120510194C>T	GRCh37
NC_000001.9:g.120311717C>T	NCBI36
NG_008163.1:g.107083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1315G>A MANE Select	ENSP00000256646.2:p.Ala439Thr
ENST00000640021.1:c.535G>A	ENSP00000492223.1:n.535G>A
ENST00000256646.6:c.1315G>A	ENSP00000256646.2:p.Ala439Thr
ENST00000479412.2:n.1453G>A
ENST00000579475.7:c.1198G>A	ENSP00000477065.2:p.Ala400Thr
NM_001200001.1:c.1315G>A	NP_001186930.1:p.Ala439Thr
NM_024408.3:c.1315G>A	NP_077719.2:p.Ala439Thr
XM_005270901.2:c.1198G>A	XP_005270958.1:p.Ala400Thr
XM_011541519.1:c.1303G>A	XP_011539821.1:p.Ala435Thr
XM_011541520.1:c.1198G>A	XP_011539822.1:p.Ala400Thr
NM_024408.4:c.1315G>A MANE Select	NP_077719.2:p.Ala439Thr
NM_001200001.2:c.1315G>A	NP_001186930.1:p.Ala439Thr