Canonical Allele Identifier: CA420039804

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120512195T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119969572T>A , CM000663.2:g.119969572T>A	GRCh38
NC_000001.10:g.120512195T>A , CM000663.1:g.120512195T>A	GRCh37
NC_000001.9:g.120313718T>A	NCBI36
NG_008163.1:g.105082A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.1047A>T MANE Select	ENSP00000256646.2:p.Pro349=
ENST00000640021.1:c.267A>T	ENSP00000492223.1:n.267A>T
ENST00000256646.6:c.1047A>T	ENSP00000256646.2:p.Pro349=
ENST00000479412.2:n.1185A>T
ENST00000579475.7:c.930A>T	ENSP00000477065.2:p.Pro310=
NM_001200001.1:c.1047A>T	NP_001186930.1:p.Pro349=
NM_024408.3:c.1047A>T	NP_077719.2:p.Pro349=
XM_005270901.2:c.930A>T	XP_005270958.1:p.Pro310=
XM_011541519.1:c.1035A>T	XP_011539821.1:p.Pro345=
XM_011541520.1:c.930A>T	XP_011539822.1:p.Pro310=
NM_024408.4:c.1047A>T MANE Select	NP_077719.2:p.Pro349=
NM_001200001.2:c.1047A>T	NP_001186930.1:p.Pro349=