Canonical Allele Identifier: CA420033704
Gene: NOTCH2 HGNC NCBI

Linked Data

gnomAD v4: 1-119915450-C-T
MyVariant Identifiers: chr1:g.120458073C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915450C>T , CM000663.2:g.119915450C>T GRCh38
NC_000001.10:g.120458073C>T , CM000663.1:g.120458073C>T GRCh37
NC_000001.9:g.120259596C>T NCBI36
NG_008163.1:g.159204G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7272G>A MANE Select ENSP00000256646.2:p.Gln2424=
ENST00000256646.6:c.7272G>A ENSP00000256646.2:p.Gln2424=
NM_024408.3:c.7272G>A NP_077719.2:p.Gln2424=
XM_005270901.2:c.7155G>A XP_005270958.1:p.Gln2385=
XM_011541519.1:c.7260G>A XP_011539821.1:p.Gln2420=
XM_011541520.1:c.7155G>A XP_011539822.1:p.Gln2385=
NM_024408.4:c.7272G>A MANE Select NP_077719.2:p.Gln2424=
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