Canonical Allele Identifier: CA344280
Gene: NOTCH2 HGNC NCBI

Linked Data

dbSNP Id: rs312262794
MyVariant Identifiers: chr1:g.120510784G>A (hg19) chr1:g.119968161G>A (hg38)
PubMed: PMID:20301450
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119968161G>A , CM000663.2:g.119968161G>A GRCh38
NC_000001.10:g.120510784G>A , CM000663.1:g.120510784G>A GRCh37
NC_000001.9:g.120312307G>A NCBI36
NG_008163.1:g.106493C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.1180C>T MANE Select ENSP00000256646.2:p.Pro394Ser
ENST00000640021.1:c.400C>T ENSP00000492223.1:n.400C>T
ENST00000256646.6:c.1180C>T ENSP00000256646.2:p.Pro394Ser
ENST00000479412.2:n.1318C>T
ENST00000579475.7:c.1063C>T ENSP00000477065.2:p.Pro355Ser
NM_001200001.1:c.1180C>T NP_001186930.1:p.Pro394Ser
NM_024408.3:c.1180C>T NP_077719.2:p.Pro394Ser
XM_005270901.2:c.1063C>T XP_005270958.1:p.Pro355Ser
XM_011541519.1:c.1168C>T XP_011539821.1:p.Pro390Ser
XM_011541520.1:c.1063C>T XP_011539822.1:p.Pro355Ser
NM_024408.4:c.1180C>T MANE Select NP_077719.2:p.Pro394Ser
NM_001200001.2:c.1180C>T NP_001186930.1:p.Pro394Ser
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