Canonical Allele Identifier: CA2525057834
Gene: NOTCH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119975356G>T , CM000663.2:g.119975356G>T GRCh38
NC_000001.10:g.120517979G>T , CM000663.1:g.120517979G>T GRCh37
NC_000001.9:g.120319502G>T NCBI36
NG_008163.1:g.99298C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.875-5612C>A MANE Select ENSP00000256646.2:n.875-5612C>A
ENST00000640021.1:c.94+994C>A ENSP00000492223.1:n.94+994C>A
ENST00000256646.6:c.875-5612C>A ENSP00000256646.2:n.875-5612C>A
ENST00000479412.2:n.1013-5612C>A
ENST00000579475.7:c.758-5612C>A ENSP00000477065.2:n.758-5612C>A
NM_001200001.1:c.875-5612C>A NP_001186930.1:n.875-5612C>A
NM_024408.3:c.875-5612C>A NP_077719.2:n.875-5612C>A
XM_005270901.2:c.758-5612C>A XP_005270958.1:n.758-5612C>A
XM_011541519.1:c.863-5612C>A XP_011539821.1:n.863-5612C>A
XM_011541520.1:c.758-5612C>A XP_011539822.1:n.758-5612C>A
NM_024408.4:c.875-5612C>A MANE Select NP_077719.2:n.875-5612C>A
NM_001200001.2:c.875-5612C>A NP_001186930.1:n.875-5612C>A
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