Canonical Allele Identifier: CA1040602

Gene: NOTCH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119968207T>C , CM000663.2:g.119968207T>C	GRCh38
NC_000001.10:g.120510830T>C , CM000663.1:g.120510830T>C	GRCh37
NC_000001.9:g.120312353T>C	NCBI36
NG_008163.1:g.106447A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024408.4:c.1134A>G MANE Select	NP_077719.2:p.Ala378=
ENST00000256646.7:c.1134A>G MANE Select	ENSP00000256646.2:p.Ala378=
NM_001200001.1:c.1134A>G	NP_001186930.1:p.Ala378=
NM_001200001.2:c.1134A>G	NP_001186930.1:p.Ala378=
NM_024408.3:c.1134A>G	NP_077719.2:p.Ala378=
ENST00000256646.6:c.1134A>G	ENSP00000256646.2:p.Ala378=
ENST00000479412.2:n.1272A>G
ENST00000579475.7:c.1017A>G	ENSP00000477065.2:p.Ala339=
ENST00000640021.1:c.354A>G	ENSP00000492223.1:n.354A>G
XM_005270901.2:c.1017A>G	XP_005270958.1:p.Ala339=
XM_011541519.1:c.1122A>G	XP_011539821.1:p.Ala374=
XM_011541520.1:c.1017A>G	XP_011539822.1:p.Ala339=