Canonical Allele Identifier: CA341872313
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458084A>G (hg19) chr1:g.119915461A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915461A>G , CM000663.2:g.119915461A>G GRCh38
NC_000001.10:g.120458084A>G , CM000663.1:g.120458084A>G GRCh37
NC_000001.9:g.120259607A>G NCBI36
NG_008163.1:g.159193T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7261T>C MANE Select ENSP00000256646.2:p.Ser2421Pro
ENST00000256646.6:c.7261T>C ENSP00000256646.2:p.Ser2421Pro
NM_024408.3:c.7261T>C NP_077719.2:p.Ser2421Pro
XM_005270901.2:c.7144T>C XP_005270958.1:p.Ser2382Pro
XM_011541519.1:c.7249T>C XP_011539821.1:p.Ser2417Pro
XM_011541520.1:c.7144T>C XP_011539822.1:p.Ser2382Pro
NM_024408.4:c.7261T>C MANE Select NP_077719.2:p.Ser2421Pro
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