Canonical Allele Identifier: CA426119816

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673423
• ClinVar RCV Id: RCV003450146
• COSMIC: COSM1408273
• MyVariant Identifiers: chr2:g.47705637_47705638insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478498dup , CM000664.2:g.47478498dup	GRCh38
NC_000002.11:g.47705637dup , CM000664.1:g.47705637dup	GRCh37
NC_000002.10:g.47559141dup	NCBI36
NG_007110.2:g.80375dup , LRG_218:g.80375dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2437dup	ENSP00000495641.2:p.Met813AsnfsTer11
ENST00000233146.7:c.2437dup MANE Select	ENSP00000233146.2:p.Met813AsnfsTer11
ENST00000543555.6:c.2239dup	ENSP00000442697.1:p.Met747AsnfsTer11
ENST00000644092.1:c.*737dup	ENSP00000496351.1:n.*737dup
ENST00000644900.1:c.290dup
ENST00000645339.1:c.2437dup	ENSP00000496441.1:p.Met813AsnfsTer11
ENST00000645506.1:c.2437dup	ENSP00000495455.1:p.Met813AsnfsTer11
ENST00000646415.1:c.2437dup	ENSP00000495543.1:p.Met813AsnfsTer11
ENST00000233146.6:c.2437dup	ENSP00000233146.2:p.Met813AsnfsTer11
ENST00000406134.5:c.2437dup	ENSP00000384199.1:p.Met813AsnfsTer11
ENST00000543555.5:c.2239dup	ENSP00000442697.1:p.Met747AsnfsTer11
ENST00000610696.4:c.*833dup	ENSP00000483159.1:n.*833dup
ENST00000613514.4:c.*977dup	ENSP00000484137.1:n.*977dup
ENST00000617333.3:c.*1203dup	ENSP00000482468.1:n.*1203dup
ENST00000617938.4:c.*1409dup	ENSP00000481158.1:n.*1409dup
ENST00000621359.2:c.*3dup	ENSP00000481416.1:n.*3dup
NM_000251.2:c.2437dup , LRG_218t1:c.2437dup	NP_000242.1:p.Met813AsnfsTer11
NM_001258281.1:c.2239dup	NP_001245210.1:p.Met747AsnfsTer11
XM_005264332.2:c.2437dup	XP_005264389.2:p.Met813AsnfsTer11
XM_011532867.1:c.2437dup	XP_011531169.1:p.Met813AsnfsTer11
XR_939685.1:n.2509dup
XM_005264332.4:c.2437dup	XP_005264389.2:p.Met813AsnfsTer11
XM_011532867.2:c.2437dup	XP_011531169.1:p.Met813AsnfsTer11
XR_001738747.2:n.2499dup
XR_939685.2:n.2499dup
NM_000251.3:c.2437dup MANE Select	NP_000242.1:p.Met813AsnfsTer11