Canonical Allele Identifier: CA1039309
Gene: NOTCH2 HGNC NCBI

Linked Data

dbSNP Id: rs778456880
ExAC: 1:120458171 A / C
gnomAD v2: 1-120458171-A-C
gnomAD v4: 1-119915548-A-C
MyVariant Identifiers: chr1:g.120458171A>C (hg19) chr1:g.119915548A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915548A>C , CM000663.2:g.119915548A>C GRCh38
NC_000001.10:g.120458171A>C , CM000663.1:g.120458171A>C GRCh37
NC_000001.9:g.120259694A>C NCBI36
NG_008163.1:g.159106T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.7174T>G MANE Select ENSP00000256646.2:p.Tyr2392Asp
ENST00000256646.6:c.7174T>G ENSP00000256646.2:p.Tyr2392Asp
NM_024408.3:c.7174T>G NP_077719.2:p.Tyr2392Asp
XM_005270901.2:c.7057T>G XP_005270958.1:p.Tyr2353Asp
XM_011541519.1:c.7162T>G XP_011539821.1:p.Tyr2388Asp
XM_011541520.1:c.7057T>G XP_011539822.1:p.Tyr2353Asp
NM_024408.4:c.7174T>G MANE Select NP_077719.2:p.Tyr2392Asp
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