Canonical Allele Identifier: CA341882489

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120512194C>A (hg19) ; chr1:g.119969571C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119969571C>A , CM000663.2:g.119969571C>A	GRCh38
NC_000001.10:g.120512194C>A , CM000663.1:g.120512194C>A	GRCh37
NC_000001.9:g.120313717C>A	NCBI36
NG_008163.1:g.105083G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1048G>T MANE Select	ENSP00000256646.2:p.Gly350Cys
ENST00000640021.1:c.268G>T	ENSP00000492223.1:n.268G>T
ENST00000256646.6:c.1048G>T	ENSP00000256646.2:p.Gly350Cys
ENST00000479412.2:n.1186G>T
ENST00000579475.7:c.931G>T	ENSP00000477065.2:p.Gly311Cys
NM_001200001.1:c.1048G>T	NP_001186930.1:p.Gly350Cys
NM_024408.3:c.1048G>T	NP_077719.2:p.Gly350Cys
XM_005270901.2:c.931G>T	XP_005270958.1:p.Gly311Cys
XM_011541519.1:c.1036G>T	XP_011539821.1:p.Gly346Cys
XM_011541520.1:c.931G>T	XP_011539822.1:p.Gly311Cys
NM_024408.4:c.1048G>T MANE Select	NP_077719.2:p.Gly350Cys
NM_001200001.2:c.1048G>T	NP_001186930.1:p.Gly350Cys