Canonical Allele Identifier: CA341877719

Gene: NOTCH2

Linked Data

• MyVariant Identifiers: chr1:g.120510101T>G (hg19) ; chr1:g.119967478T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119967478T>G , CM000663.2:g.119967478T>G	GRCh38
NC_000001.10:g.120510101T>G , CM000663.1:g.120510101T>G	GRCh37
NC_000001.9:g.120311624T>G	NCBI36
NG_008163.1:g.107176A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.1408A>C MANE Select	ENSP00000256646.2:p.Thr470Pro
ENST00000640021.1:c.628A>C	ENSP00000492223.1:n.628A>C
ENST00000256646.6:c.1408A>C	ENSP00000256646.2:p.Thr470Pro
ENST00000479412.2:n.1546A>C
ENST00000579475.7:c.1291A>C	ENSP00000477065.2:p.Thr431Pro
NM_001200001.1:c.1408A>C	NP_001186930.1:p.Thr470Pro
NM_024408.3:c.1408A>C	NP_077719.2:p.Thr470Pro
XM_005270901.2:c.1291A>C	XP_005270958.1:p.Thr431Pro
XM_011541519.1:c.1396A>C	XP_011539821.1:p.Thr466Pro
XM_011541520.1:c.1291A>C	XP_011539822.1:p.Thr431Pro
NM_024408.4:c.1408A>C MANE Select	NP_077719.2:p.Thr470Pro
NM_001200001.2:c.1408A>C	NP_001186930.1:p.Thr470Pro