Canonical Allele Identifier: CA46700032

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1779848
• ClinVar RCV Id: RCV002401865
• dbSNP Id: rs63750015

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475039dup , CM000664.2:g.47475039dup	GRCh38
NC_000002.11:g.47702178dup , CM000664.1:g.47702178dup	GRCh37
NC_000002.10:g.47555682dup	NCBI36
NG_007110.2:g.76916dup , LRG_218:g.76916dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1774dup	ENSP00000495641.2:p.Met592AsnfsTer6
ENST00000233146.7:c.1774dup MANE Select	ENSP00000233146.2:p.Met592AsnfsTer6
ENST00000543555.6:c.1576dup	ENSP00000442697.1:p.Met526AsnfsTer6
ENST00000644092.1:c.*74dup	ENSP00000496351.1:n.*74dup
ENST00000645339.1:c.1774dup	ENSP00000496441.1:p.Met592AsnfsTer6
ENST00000645506.1:c.1774dup	ENSP00000495455.1:p.Met592AsnfsTer6
ENST00000646415.1:c.1774dup	ENSP00000495543.1:p.Met592AsnfsTer6
ENST00000233146.6:c.1774dup	ENSP00000233146.2:p.Met592AsnfsTer6
ENST00000406134.5:c.1774dup	ENSP00000384199.1:p.Met592AsnfsTer6
ENST00000543555.5:c.1576dup	ENSP00000442697.1:p.Met526AsnfsTer6
ENST00000610696.4:c.*170dup	ENSP00000483159.1:n.*170dup
ENST00000613514.4:c.*314dup	ENSP00000484137.1:n.*314dup
ENST00000617333.3:c.*540dup	ENSP00000482468.1:n.*540dup
ENST00000617938.4:c.*746dup	ENSP00000481158.1:n.*746dup
ENST00000621359.2:c.1774dup	ENSP00000481416.1:p.Met592AsnfsTer6
NM_000251.2:c.1774dup , LRG_218t1:c.1774dup	NP_000242.1:p.Met592AsnfsTer6
NM_001258281.1:c.1576dup	NP_001245210.1:p.Met526AsnfsTer6
XM_005264332.2:c.1774dup	XP_005264389.2:p.Met592AsnfsTer6
XM_011532867.1:c.1774dup	XP_011531169.1:p.Met592AsnfsTer6
XR_939685.1:n.1846dup
XM_005264332.4:c.1774dup	XP_005264389.2:p.Met592AsnfsTer6
XM_011532867.2:c.1774dup	XP_011531169.1:p.Met592AsnfsTer6
XR_001738747.2:n.1836dup
XR_939685.2:n.1836dup
NM_000251.3:c.1774dup MANE Select	NP_000242.1:p.Met592AsnfsTer6