Canonical Allele Identifier: CA341872947
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458173C>T (hg19) chr1:g.119915550C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915550C>T , CM000663.2:g.119915550C>T GRCh38
NC_000001.10:g.120458173C>T , CM000663.1:g.120458173C>T GRCh37
NC_000001.9:g.120259696C>T NCBI36
NG_008163.1:g.159104G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.7172G>A MANE Select ENSP00000256646.2:p.Ser2391Asn
ENST00000256646.6:c.7172G>A ENSP00000256646.2:p.Ser2391Asn
NM_024408.3:c.7172G>A NP_077719.2:p.Ser2391Asn
XM_005270901.2:c.7055G>A XP_005270958.1:p.Ser2352Asn
XM_011541519.1:c.7160G>A XP_011539821.1:p.Ser2387Asn
XM_011541520.1:c.7055G>A XP_011539822.1:p.Ser2352Asn
NM_024408.4:c.7172G>A MANE Select NP_077719.2:p.Ser2391Asn
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