Canonical Allele Identifier: CA341872307
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458083G>T (hg19) chr1:g.119915460G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915460G>T , CM000663.2:g.119915460G>T GRCh38
NC_000001.10:g.120458083G>T , CM000663.1:g.120458083G>T GRCh37
NC_000001.9:g.120259606G>T NCBI36
NG_008163.1:g.159194C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.7262C>A MANE Select ENSP00000256646.2:p.Ser2421Tyr
ENST00000256646.6:c.7262C>A ENSP00000256646.2:p.Ser2421Tyr
NM_024408.3:c.7262C>A NP_077719.2:p.Ser2421Tyr
XM_005270901.2:c.7145C>A XP_005270958.1:p.Ser2382Tyr
XM_011541519.1:c.7250C>A XP_011539821.1:p.Ser2417Tyr
XM_011541520.1:c.7145C>A XP_011539822.1:p.Ser2382Tyr
NM_024408.4:c.7262C>A MANE Select NP_077719.2:p.Ser2421Tyr
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