Canonical Allele Identifier: CA420033786
Gene: NOTCH2 HGNC NCBI

Linked Data

dbSNP Id: rs1280273504
gnomAD v2: 1-120458085-C-T
gnomAD v3: 1-119915462-C-T
gnomAD v4: 1-119915462-C-T
MyVariant Identifiers: chr1:g.120458085C>T (hg19) chr1:g.119915462C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915462C>T , CM000663.2:g.119915462C>T GRCh38
NC_000001.10:g.120458085C>T , CM000663.1:g.120458085C>T GRCh37
NC_000001.9:g.120259608C>T NCBI36
NG_008163.1:g.159192G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7260G>A MANE Select ENSP00000256646.2:p.Glu2420=
ENST00000256646.6:c.7260G>A ENSP00000256646.2:p.Glu2420=
NM_024408.3:c.7260G>A NP_077719.2:p.Glu2420=
XM_005270901.2:c.7143G>A XP_005270958.1:p.Glu2381=
XM_011541519.1:c.7248G>A XP_011539821.1:p.Glu2416=
XM_011541520.1:c.7143G>A XP_011539822.1:p.Glu2381=
NM_024408.4:c.7260G>A MANE Select NP_077719.2:p.Glu2420=
Search 100 bp 5'
Search 100 bp 3'