Canonical Allele Identifier: CA2697548102

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2740473
• ClinVar RCV Id: RCV003593480

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463117_47463161dup , CM000664.2:g.47463117_47463161dup	GRCh38
NC_000002.11:g.47690256_47690300dup , CM000664.1:g.47690256_47690300dup	GRCh37
NC_000002.10:g.47543760_47543804dup	NCBI36
NG_007110.2:g.64994_65038dup , LRG_218:g.64994_65038dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1473_1510+7dup
ENST00000233146.7:c.1473_1510+7dup
ENST00000543555.6:c.1275_1312+7dup
ENST00000644092.1:c.1473_1510+7dup
ENST00000645339.1:c.1473_1510+7dup
ENST00000645506.1:c.1473_1510+7dup
ENST00000646415.1:c.1473_1510+7dup
ENST00000233146.6:c.1473_1510+7dup
ENST00000406134.5:c.1473_1510+7dup
ENST00000543555.5:c.1275_1312+7dup
ENST00000610696.4:c.1473_1510+7dup
ENST00000613514.4:c.*13_*50+7dup
ENST00000617333.3:c.*239_*276+7dup
ENST00000617938.4:c.*445_*482+7dup
ENST00000621359.2:c.1473_1510+7dup
NM_000251.2:c.1473_1510+7dup , LRG_218t1:c.1473_1510+7dup
NM_001258281.1:c.1275_1312+7dup
XM_005264332.2:c.1473_1510+7dup
XM_011532867.1:c.1473_1510+7dup
XR_939685.1:n.1545_1582+7dup
XM_005264332.4:c.1473_1510+7dup
XM_011532867.2:c.1473_1510+7dup
XR_001738747.2:n.1535_1572+7dup
XR_939685.2:n.1535_1572+7dup
NM_000251.3:c.1473_1510+7dup