Canonical Allele Identifier: CA161277
Gene: NOTCH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 134975
ClinVar RCV Id: RCV000121725 RCV000514264 RCV001083816 RCV003925203
dbSNP Id: rs41313282
ExAC: 1:120468201 A / T
gnomAD v2: 1-120468201-A-T
gnomAD v3: 1-119925578-A-T
gnomAD v4: 1-119925578-A-T
MyVariant Identifiers: chr1:g.120468201A>T (hg19) chr1:g.119925578A>T (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119925578A>T , CM000663.2:g.119925578A>T GRCh38
NC_000001.10:g.120468201A>T , CM000663.1:g.120468201A>T GRCh37
NC_000001.9:g.120269724A>T NCBI36
NG_008163.1:g.149076T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.4238T>A MANE Select ENSP00000256646.2:p.Leu1413His
ENST00000256646.6:c.4238T>A ENSP00000256646.2:p.Leu1413His
NM_024408.3:c.4238T>A NP_077719.2:p.Leu1413His
XM_005270901.2:c.4121T>A XP_005270958.1:p.Leu1374His
XM_011541519.1:c.4226T>A XP_011539821.1:p.Leu1409His
XM_011541520.1:c.4121T>A XP_011539822.1:p.Leu1374His
NM_024408.4:c.4238T>A MANE Select NP_077719.2:p.Leu1413His
Search 100 bp 5'
Search 100 bp 3'