Canonical Allele Identifier: CA341878391

Gene: NOTCH2

Linked Data

• dbSNP Id: rs1651191242
• gnomAD v3: 1-119967577-C-A
• gnomAD v4: 1-119967577-C-A
• MyVariant Identifiers: chr1:g.120510200C>A (hg19) ; chr1:g.119967577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967577C>A , CM000663.2:g.119967577C>A	GRCh38
NC_000001.10:g.120510200C>A , CM000663.1:g.120510200C>A	GRCh37
NC_000001.9:g.120311723C>A	NCBI36
NG_008163.1:g.107077G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1309G>T MANE Select	ENSP00000256646.2:p.Asp437Tyr
ENST00000640021.1:c.529G>T	ENSP00000492223.1:n.529G>T
ENST00000256646.6:c.1309G>T	ENSP00000256646.2:p.Asp437Tyr
ENST00000479412.2:n.1447G>T
ENST00000579475.7:c.1192G>T	ENSP00000477065.2:p.Asp398Tyr
NM_001200001.1:c.1309G>T	NP_001186930.1:p.Asp437Tyr
NM_024408.3:c.1309G>T	NP_077719.2:p.Asp437Tyr
XM_005270901.2:c.1192G>T	XP_005270958.1:p.Asp398Tyr
XM_011541519.1:c.1297G>T	XP_011539821.1:p.Asp433Tyr
XM_011541520.1:c.1192G>T	XP_011539822.1:p.Asp398Tyr
NM_024408.4:c.1309G>T MANE Select	NP_077719.2:p.Asp437Tyr
NM_001200001.2:c.1309G>T	NP_001186930.1:p.Asp437Tyr