Canonical Allele Identifier: CA251947

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1761
• ClinVar RCV Id: RCV000001831 ; RCV000076538
• dbSNP Id: rs1553350126
• MyVariant Identifiers: chr2:g.47635597_47635618dup22 (hg19) ; chr2:g.47408458_47408479dup22 (hg38) ; chr2:g.47408479_47408480insAAGATCTTCTTCTGGTTCGTCA (hg38)
• PubMed: PMID:9217825 ; PMID:9634524 ; PMID:10323887 ; PMID:15235030

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47408458_47408479dup , CM000664.2:g.47408458_47408479dup	GRCh38
NC_000002.11:g.47635597_47635618dup , CM000664.1:g.47635597_47635618dup	GRCh37
NC_000002.10:g.47489101_47489122dup	NCBI36
NG_007110.2:g.10335_10356dup , LRG_218:g.10335_10356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.269_290dup	ENSP00000495641.2:p.Tyr98ArgfsTer9
ENST00000233146.7:c.269_290dup MANE Select	ENSP00000233146.2:p.Tyr98ArgfsTer9
ENST00000543555.6:c.71_92dup	ENSP00000442697.1:p.Tyr32ArgfsTer9
ENST00000644092.1:c.269_290dup	ENSP00000496351.1:p.Tyr98ArgfsTer9
ENST00000645339.1:c.269_290dup	ENSP00000496441.1:p.Tyr98ArgfsTer9
ENST00000645506.1:c.269_290dup	ENSP00000495455.1:p.Tyr98ArgfsTer9
ENST00000646415.1:c.269_290dup	ENSP00000495543.1:p.Tyr98ArgfsTer9
ENST00000233146.6:c.269_290dup	ENSP00000233146.2:p.Tyr98ArgfsTer9
ENST00000406134.5:c.269_290dup	ENSP00000384199.1:p.Tyr98ArgfsTer9
ENST00000454849.5:c.71_92dup	ENSP00000411482.1:p.Tyr32ArgfsTer9
ENST00000543555.5:c.71_92dup	ENSP00000442697.1:p.Tyr32ArgfsTer9
ENST00000610696.4:c.269_290dup	ENSP00000483159.1:p.Tyr98ArgfsTer9
ENST00000613514.4:c.269_290dup	ENSP00000484137.1:p.Tyr98ArgfsTer9
ENST00000617333.3:c.269_290dup	ENSP00000482468.1:p.Tyr98ArgfsTer9
ENST00000617938.4:c.269_290dup	ENSP00000481158.1:p.Tyr98ArgfsTer9
ENST00000621359.2:c.269_290dup	ENSP00000481416.1:p.Tyr98ArgfsTer9
NM_000251.2:c.269_290dup , LRG_218t1:c.269_290dup	NP_000242.1:p.Tyr98ArgfsTer9
NM_001258281.1:c.71_92dup	NP_001245210.1:p.Tyr32ArgfsTer9
XM_005264332.2:c.269_290dup	XP_005264389.2:p.Tyr98ArgfsTer9
XM_011532867.1:c.269_290dup	XP_011531169.1:p.Tyr98ArgfsTer9
XR_939685.1:n.341_362dup
XM_005264332.4:c.269_290dup	XP_005264389.2:p.Tyr98ArgfsTer9
XM_011532867.2:c.269_290dup	XP_011531169.1:p.Tyr98ArgfsTer9
XR_001738747.2:n.331_352dup
XR_939685.2:n.331_352dup
NM_000251.3:c.269_290dup MANE Select	NP_000242.1:p.Tyr98ArgfsTer9