Canonical Allele Identifier: CA341872294
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458081G>A (hg19) chr1:g.119915458G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915458G>A , CM000663.2:g.119915458G>A GRCh38
NC_000001.10:g.120458081G>A , CM000663.1:g.120458081G>A GRCh37
NC_000001.9:g.120259604G>A NCBI36
NG_008163.1:g.159196C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.7264C>T MANE Select ENSP00000256646.2:p.Pro2422Ser
ENST00000256646.6:c.7264C>T ENSP00000256646.2:p.Pro2422Ser
NM_024408.3:c.7264C>T NP_077719.2:p.Pro2422Ser
XM_005270901.2:c.7147C>T XP_005270958.1:p.Pro2383Ser
XM_011541519.1:c.7252C>T XP_011539821.1:p.Pro2418Ser
XM_011541520.1:c.7147C>T XP_011539822.1:p.Pro2383Ser
NM_024408.4:c.7264C>T MANE Select NP_077719.2:p.Pro2422Ser
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