Canonical Allele Identifier: CA2573134675

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1359584
• ClinVar RCV Id: RCV001894513
• dbSNP Id: rs2103881979

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403392_47403410dup , CM000664.2:g.47403392_47403410dup	GRCh38
NC_000002.11:g.47630531_47630549dup , CM000664.1:g.47630531_47630549dup	GRCh37
NC_000002.10:g.47484035_47484053dup	NCBI36
NG_007110.2:g.5269_5287dup , LRG_218:g.5269_5287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.201_211+8dup
ENST00000233146.7:c.201_211+8dup
ENST00000543555.6:c.3_13+8dup
ENST00000644092.1:c.201_211+8dup
ENST00000645339.1:c.201_211+8dup
ENST00000645506.1:c.201_211+8dup
ENST00000646415.1:c.201_211+8dup
ENST00000233146.6:c.201_211+8dup
ENST00000406134.5:c.201_211+8dup
ENST00000454849.5:c.3_13+8dup
ENST00000543555.5:c.3_13+8dup
ENST00000610696.4:c.201_211+8dup
ENST00000613514.4:c.201_211+8dup
ENST00000617333.3:c.201_211+8dup
ENST00000617938.4:c.201_211+8dup
ENST00000621359.2:c.201_211+8dup
NM_000251.2:c.201_211+8dup , LRG_218t1:c.201_211+8dup
NM_001258281.1:c.3_13+8dup
XM_005264332.2:c.201_211+8dup
XM_011532867.1:c.201_211+8dup
XR_939685.1:n.273_283+8dup
XM_005264332.4:c.201_211+8dup
XM_011532867.2:c.201_211+8dup
XR_001738747.2:n.263_273+8dup
XR_939685.2:n.263_273+8dup
NM_000251.3:c.201_211+8dup