Canonical Allele Identifier: CA341872919
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458172A>C (hg19) chr1:g.119915549A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915549A>C , CM000663.2:g.119915549A>C GRCh38
NC_000001.10:g.120458172A>C , CM000663.1:g.120458172A>C GRCh37
NC_000001.9:g.120259695A>C NCBI36
NG_008163.1:g.159105T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7173T>G MANE Select ENSP00000256646.2:p.Ser2391Arg
ENST00000256646.6:c.7173T>G ENSP00000256646.2:p.Ser2391Arg
NM_024408.3:c.7173T>G NP_077719.2:p.Ser2391Arg
XM_005270901.2:c.7056T>G XP_005270958.1:p.Ser2352Arg
XM_011541519.1:c.7161T>G XP_011539821.1:p.Ser2387Arg
XM_011541520.1:c.7056T>G XP_011539822.1:p.Ser2352Arg
NM_024408.4:c.7173T>G MANE Select NP_077719.2:p.Ser2391Arg
Search 100 bp 5'
Search 100 bp 3'