Canonical Allele Identifier: CA341872232
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458074T>G (hg19) chr1:g.119915451T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915451T>G , CM000663.2:g.119915451T>G GRCh38
NC_000001.10:g.120458074T>G , CM000663.1:g.120458074T>G GRCh37
NC_000001.9:g.120259597T>G NCBI36
NG_008163.1:g.159203A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.7271A>C MANE Select ENSP00000256646.2:p.Gln2424Pro
ENST00000256646.6:c.7271A>C ENSP00000256646.2:p.Gln2424Pro
NM_024408.3:c.7271A>C NP_077719.2:p.Gln2424Pro
XM_005270901.2:c.7154A>C XP_005270958.1:p.Gln2385Pro
XM_011541519.1:c.7259A>C XP_011539821.1:p.Gln2420Pro
XM_011541520.1:c.7154A>C XP_011539822.1:p.Gln2385Pro
NM_024408.4:c.7271A>C MANE Select NP_077719.2:p.Gln2424Pro
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