Canonical Allele Identifier: CA341872983
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458179T>A (hg19) chr1:g.119915556T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915556T>A , CM000663.2:g.119915556T>A GRCh38
NC_000001.10:g.120458179T>A , CM000663.1:g.120458179T>A GRCh37
NC_000001.9:g.120259702T>A NCBI36
NG_008163.1:g.159098A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7166A>T MANE Select ENSP00000256646.2:p.Gln2389Leu
ENST00000256646.6:c.7166A>T ENSP00000256646.2:p.Gln2389Leu
NM_024408.3:c.7166A>T NP_077719.2:p.Gln2389Leu
XM_005270901.2:c.7049A>T XP_005270958.1:p.Gln2350Leu
XM_011541519.1:c.7154A>T XP_011539821.1:p.Gln2385Leu
XM_011541520.1:c.7049A>T XP_011539822.1:p.Gln2350Leu
NM_024408.4:c.7166A>T MANE Select NP_077719.2:p.Gln2389Leu
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