Canonical Allele Identifier: CA018930

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90738
• ClinVar RCV Id: RCV000076235
• dbSNP Id: rs1553367587
• MyVariant Identifiers: chr2:g.47698109_47698110insA (hg19) ; chr2:g.47470970_47470971insA (hg38)
• PubMed: PMID:12095971 ; PMID:28874130

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470970_47470971insA , CM000664.2:g.47470970_47470971insA	GRCh38
NC_000002.11:g.47698109_47698110insA , CM000664.1:g.47698109_47698110insA	GRCh37
NC_000002.10:g.47551613_47551614insA	NCBI36
NG_007110.2:g.72847_72848insA , LRG_218:g.72847_72848insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1667_1668insA	ENSP00000495641.2:p.Thr557AspfsTer5
ENST00000233146.7:c.1667_1668insA MANE Select	ENSP00000233146.2:p.Thr557AspfsTer5
ENST00000543555.6:c.1469_1470insA	ENSP00000442697.1:p.Thr491AspfsTer5
ENST00000644092.1:c.1662-18_1662-17insA	ENSP00000496351.1:n.1662-18_1662-17insA
ENST00000645339.1:c.1667_1668insA	ENSP00000496441.1:p.Thr557AspfsTer5
ENST00000645506.1:c.1667_1668insA	ENSP00000495455.1:p.Thr557AspfsTer5
ENST00000646415.1:c.1667_1668insA	ENSP00000495543.1:p.Thr557AspfsTer5
ENST00000233146.6:c.1667_1668insA	ENSP00000233146.2:p.Thr557AspfsTer5
ENST00000406134.5:c.1667_1668insA	ENSP00000384199.1:p.Thr557AspfsTer5
ENST00000543555.5:c.1469_1470insA	ENSP00000442697.1:p.Thr491AspfsTer5
ENST00000610696.4:c.*63_*64insA	ENSP00000483159.1:n.*63_*64insA
ENST00000613514.4:c.*207_*208insA	ENSP00000484137.1:n.*207_*208insA
ENST00000617333.3:c.*433_*434insA	ENSP00000482468.1:n.*433_*434insA
ENST00000617938.4:c.*639_*640insA	ENSP00000481158.1:n.*639_*640insA
ENST00000621359.2:c.1667_1668insA	ENSP00000481416.1:p.Thr557AspfsTer5
NM_000251.2:c.1667_1668insA , LRG_218t1:c.1667_1668insA	NP_000242.1:p.Thr557AspfsTer5
NM_001258281.1:c.1469_1470insA	NP_001245210.1:p.Thr491AspfsTer5
XM_005264332.2:c.1667_1668insA	XP_005264389.2:p.Thr557AspfsTer5
XM_011532867.1:c.1667_1668insA	XP_011531169.1:p.Thr557AspfsTer5
XR_939685.1:n.1739_1740insA
XM_005264332.4:c.1667_1668insA	XP_005264389.2:p.Thr557AspfsTer5
XM_011532867.2:c.1667_1668insA	XP_011531169.1:p.Thr557AspfsTer5
XR_001738747.2:n.1729_1730insA
XR_939685.2:n.1729_1730insA
NM_000251.3:c.1667_1668insA MANE Select	NP_000242.1:p.Thr557AspfsTer5