Canonical Allele Identifier: CA341873006
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458183A>C (hg19) chr1:g.119915560A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915560A>C , CM000663.2:g.119915560A>C GRCh38
NC_000001.10:g.120458183A>C , CM000663.1:g.120458183A>C GRCh37
NC_000001.9:g.120259706A>C NCBI36
NG_008163.1:g.159094T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7162T>G MANE Select ENSP00000256646.2:p.Ser2388Ala
ENST00000256646.6:c.7162T>G ENSP00000256646.2:p.Ser2388Ala
NM_024408.3:c.7162T>G NP_077719.2:p.Ser2388Ala
XM_005270901.2:c.7045T>G XP_005270958.1:p.Ser2349Ala
XM_011541519.1:c.7150T>G XP_011539821.1:p.Ser2384Ala
XM_011541520.1:c.7045T>G XP_011539822.1:p.Ser2349Ala
NM_024408.4:c.7162T>G MANE Select NP_077719.2:p.Ser2388Ala
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