Canonical Allele Identifier: CA2580067458

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1733682
• ClinVar RCV Id: RCV002452556

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47408556_47408557insAAGAATGATTGGTATTTGGCATATAAGG , CM000664.2:g.47408556_47408557insAAGAATGATTGGTATTTGGCATATAAGG	GRCh38
NC_000002.11:g.47635695_47635696insAAGAATGATTGGTATTTGGCATATAAGG , CM000664.1:g.47635695_47635696insAAGAATGATTGGTATTTGGCATATAAGG	GRCh37
NC_000002.10:g.47489199_47489200insAAGAATGATTGGTATTTGGCATATAAGG	NCBI36
NG_007110.2:g.10433_10434insAAGAATGATTGGTATTTGGCATATAAGG , LRG_218:g.10433_10434insAAGAATGATTGGTATTTGGCATATAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000233146.7:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000543555.6:c.168+1_168+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000644092.1:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000645339.1:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000645506.1:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000646415.1:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000233146.6:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000406134.5:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000454849.5:c.168+1_168+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000543555.5:c.168+1_168+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000610696.4:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000613514.4:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000617333.3:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000617938.4:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
ENST00000621359.2:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
NM_000251.2:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG , LRG_218t1:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
NM_001258281.1:c.168+1_168+2insAAGAATGATTGGTATTTGGCATATAAGG
XM_005264332.2:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
XM_011532867.1:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
XR_939685.1:n.438+1_438+2insAAGAATGATTGGTATTTGGCATATAAGG
XM_005264332.4:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
XM_011532867.2:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG
XR_001738747.2:n.428+1_428+2insAAGAATGATTGGTATTTGGCATATAAGG
XR_939685.2:n.428+1_428+2insAAGAATGATTGGTATTTGGCATATAAGG
NM_000251.3:c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG