Canonical Allele Identifier: CA341881277

Gene: NOTCH2

Linked Data

• dbSNP Id: rs1651218022
• gnomAD v4: 1-119968167-T-C
• MyVariant Identifiers: chr1:g.120510790T>C (hg19) ; chr1:g.119968167T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119968167T>C , CM000663.2:g.119968167T>C	GRCh38
NC_000001.10:g.120510790T>C , CM000663.1:g.120510790T>C	GRCh37
NC_000001.9:g.120312313T>C	NCBI36
NG_008163.1:g.106487A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.1174A>G MANE Select	ENSP00000256646.2:p.Thr392Ala
ENST00000640021.1:c.394A>G	ENSP00000492223.1:n.394A>G
ENST00000256646.6:c.1174A>G	ENSP00000256646.2:p.Thr392Ala
ENST00000479412.2:n.1312A>G
ENST00000579475.7:c.1057A>G	ENSP00000477065.2:p.Thr353Ala
NM_001200001.1:c.1174A>G	NP_001186930.1:p.Thr392Ala
NM_024408.3:c.1174A>G	NP_077719.2:p.Thr392Ala
XM_005270901.2:c.1057A>G	XP_005270958.1:p.Thr353Ala
XM_011541519.1:c.1162A>G	XP_011539821.1:p.Thr388Ala
XM_011541520.1:c.1057A>G	XP_011539822.1:p.Thr353Ala
NM_024408.4:c.1174A>G MANE Select	NP_077719.2:p.Thr392Ala
NM_001200001.2:c.1174A>G	NP_001186930.1:p.Thr392Ala