Canonical Allele Identifier: CA341872203

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120458071C>A (hg19) ; chr1:g.119915448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119915448C>A , CM000663.2:g.119915448C>A	GRCh38
NC_000001.10:g.120458071C>A , CM000663.1:g.120458071C>A	GRCh37
NC_000001.9:g.120259594C>A	NCBI36
NG_008163.1:g.159206G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.7274G>T MANE Select	ENSP00000256646.2:p.Trp2425Leu
ENST00000256646.6:c.7274G>T	ENSP00000256646.2:p.Trp2425Leu
NM_024408.3:c.7274G>T	NP_077719.2:p.Trp2425Leu
XM_005270901.2:c.7157G>T	XP_005270958.1:p.Trp2386Leu
XM_011541519.1:c.7262G>T	XP_011539821.1:p.Trp2421Leu
XM_011541520.1:c.7157G>T	XP_011539822.1:p.Trp2386Leu
NM_024408.4:c.7274G>T MANE Select	NP_077719.2:p.Trp2425Leu