Canonical Allele Identifier: CA341876700

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119966451A>G , CM000663.2:g.119966451A>G	GRCh38
NC_000001.10:g.120509074A>G , CM000663.1:g.120509074A>G	GRCh37
NC_000001.9:g.120310597A>G	NCBI36
NG_008163.1:g.108203T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.1492T>C MANE Select	NP_077719.2:p.Cys498Arg
ENST00000256646.7:c.1492T>C MANE Select	ENSP00000256646.2:p.Cys498Arg
NM_001200001.1:c.1492T>C	NP_001186930.1:p.Cys498Arg
NM_001200001.2:c.1492T>C	NP_001186930.1:p.Cys498Arg
NM_024408.3:c.1492T>C	NP_077719.2:p.Cys498Arg
ENST00000256646.6:c.1492T>C	ENSP00000256646.2:p.Cys498Arg
ENST00000479412.2:n.1630T>C
ENST00000579475.7:c.1375T>C	ENSP00000477065.2:p.Cys459Arg
ENST00000640021.1:c.712T>C	ENSP00000492223.1:n.712T>C
XM_005270901.2:c.1375T>C	XP_005270958.1:p.Cys459Arg
XM_011541519.1:c.1480T>C	XP_011539821.1:p.Cys494Arg
XM_011541520.1:c.1375T>C	XP_011539822.1:p.Cys459Arg