Canonical Allele Identifier: CA341872275

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 2827356
• ClinVar RCV Id: RCV003634884
• MyVariant Identifiers: chr1:g.120458080G>A (hg19) ; chr1:g.119915457G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.7265C>T MANE Select	ENSP00000256646.2:p.Pro2422Leu
ENST00000256646.6:c.7265C>T	ENSP00000256646.2:p.Pro2422Leu
NM_024408.3:c.7265C>T	NP_077719.2:p.Pro2422Leu
XM_005270901.2:c.7148C>T	XP_005270958.1:p.Pro2383Leu
XM_011541519.1:c.7253C>T	XP_011539821.1:p.Pro2418Leu
XM_011541520.1:c.7148C>T	XP_011539822.1:p.Pro2383Leu
NM_024408.4:c.7265C>T MANE Select	NP_077719.2:p.Pro2422Leu