Canonical Allele Identifier: CA020581

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90970
• ClinVar RCV Id: RCV000076472
• dbSNP Id: rs63751079
• MyVariant Identifiers: chr2:g.47705627dupG (hg19) ; chr2:g.47478488dupG (hg38)
• PubMed: PMID:10530347

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478488dup , CM000664.2:g.47478488dup	GRCh38
NC_000002.11:g.47705627dup , CM000664.1:g.47705627dup	GRCh37
NC_000002.10:g.47559131dup	NCBI36
NG_007110.2:g.80365dup , LRG_218:g.80365dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2427dup	ENSP00000495641.2:p.Thr810AspfsTer14
ENST00000233146.7:c.2427dup MANE Select	ENSP00000233146.2:p.Thr810AspfsTer14
ENST00000543555.6:c.2229dup	ENSP00000442697.1:p.Thr744AspfsTer14
ENST00000644092.1:c.*727dup	ENSP00000496351.1:n.*727dup
ENST00000644900.1:c.280dup
ENST00000645339.1:c.2427dup	ENSP00000496441.1:p.Thr810AspfsTer14
ENST00000645506.1:c.2427dup	ENSP00000495455.1:p.Thr810AspfsTer14
ENST00000646415.1:c.2427dup	ENSP00000495543.1:p.Thr810AspfsTer14
ENST00000233146.6:c.2427dup	ENSP00000233146.2:p.Thr810AspfsTer14
ENST00000406134.5:c.2427dup	ENSP00000384199.1:p.Thr810AspfsTer14
ENST00000543555.5:c.2229dup	ENSP00000442697.1:p.Thr744AspfsTer14
ENST00000610696.4:c.*823dup	ENSP00000483159.1:n.*823dup
ENST00000613514.4:c.*967dup	ENSP00000484137.1:n.*967dup
ENST00000617333.3:c.*1193dup	ENSP00000482468.1:n.*1193dup
ENST00000617938.4:c.*1399dup	ENSP00000481158.1:n.*1399dup
ENST00000621359.2:c.2426dup	ENSP00000481416.1:p.Pro810ThrfsTer?
NM_000251.2:c.2427dup , LRG_218t1:c.2427dup	NP_000242.1:p.Thr810AspfsTer14
NM_001258281.1:c.2229dup	NP_001245210.1:p.Thr744AspfsTer14
XM_005264332.2:c.2427dup	XP_005264389.2:p.Thr810AspfsTer14
XM_011532867.1:c.2427dup	XP_011531169.1:p.Thr810AspfsTer14
XR_939685.1:n.2499dup
XM_005264332.4:c.2427dup	XP_005264389.2:p.Thr810AspfsTer14
XM_011532867.2:c.2427dup	XP_011531169.1:p.Thr810AspfsTer14
XR_001738747.2:n.2489dup
XR_939685.2:n.2489dup
NM_000251.3:c.2427dup MANE Select	NP_000242.1:p.Thr810AspfsTer14