Canonical Allele Identifier: CA2580067091

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1784064
• ClinVar RCV Id: RCV002417001

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475262_47475274del , CM000664.2:g.47475262_47475274del	GRCh38
NC_000002.11:g.47702401_47702413del , CM000664.1:g.47702401_47702413del	GRCh37
NC_000002.10:g.47555905_47555917del	NCBI36
NG_007110.2:g.77139_77151del , LRG_218:g.77139_77151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1997_2005+4del
ENST00000233146.7:c.1997_2005+4del
ENST00000543555.6:c.1799_1807+4del
ENST00000644092.1:c.*297_*305+4del
ENST00000645339.1:c.1997_2005+4del
ENST00000645506.1:c.1997_2005+4del
ENST00000646415.1:c.1997_2005+4del
ENST00000233146.6:c.1997_2005+4del
ENST00000406134.5:c.1997_2005+4del
ENST00000543555.5:c.1799_1807+4del
ENST00000610696.4:c.*393_*401+4del
ENST00000613514.4:c.*537_*545+4del
ENST00000617333.3:c.*763_*771+4del
ENST00000617938.4:c.*969_*977+4del
ENST00000621359.2:c.1997_2005+4del
NM_000251.2:c.1997_2005+4del , LRG_218t1:c.1997_2005+4del
NM_001258281.1:c.1799_1807+4del
XM_005264332.2:c.1997_2005+4del
XM_011532867.1:c.1997_2005+4del
XR_939685.1:n.2069_2077+4del
XM_005264332.4:c.1997_2005+4del
XM_011532867.2:c.1997_2005+4del
XR_001738747.2:n.2059_2067+4del
XR_939685.2:n.2059_2067+4del
NM_000251.3:c.1997_2005+4del