Canonical Allele Identifier: CA341872280
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458080G>T (hg19) chr1:g.119915457G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915457G>T , CM000663.2:g.119915457G>T GRCh38
NC_000001.10:g.120458080G>T , CM000663.1:g.120458080G>T GRCh37
NC_000001.9:g.120259603G>T NCBI36
NG_008163.1:g.159197C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7265C>A MANE Select ENSP00000256646.2:p.Pro2422His
ENST00000256646.6:c.7265C>A ENSP00000256646.2:p.Pro2422His
NM_024408.3:c.7265C>A NP_077719.2:p.Pro2422His
XM_005270901.2:c.7148C>A XP_005270958.1:p.Pro2383His
XM_011541519.1:c.7253C>A XP_011539821.1:p.Pro2418His
XM_011541520.1:c.7148C>A XP_011539822.1:p.Pro2383His
NM_024408.4:c.7265C>A MANE Select NP_077719.2:p.Pro2422His
Search 100 bp 5'
Search 100 bp 3'