Canonical Allele Identifier: CA2580067357

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1778966
• ClinVar RCV Id: RCV002407415

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403364_47405549del , CM000664.2:g.47403364_47405549del	GRCh38
NC_000002.11:g.47630503_47632688del , CM000664.1:g.47630503_47632688del	GRCh37
NC_000002.10:g.47484007_47486192del	NCBI36
NG_007110.2:g.5241_7426del , LRG_218:g.5241_7426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.173_211+2147del
ENST00000233146.7:c.173_211+2147del
ENST00000543555.6:c.-26_13+2147del
ENST00000644092.1:c.173_211+2147del
ENST00000645339.1:c.173_211+2147del
ENST00000645506.1:c.173_211+2147del
ENST00000646415.1:c.173_211+2147del
ENST00000233146.6:c.173_211+2147del
ENST00000406134.5:c.173_211+2147del
ENST00000454849.5:c.-26_13+2147del
ENST00000543555.5:c.-26_13+2147del
ENST00000610696.4:c.173_211+2147del
ENST00000613514.4:c.173_211+2147del
ENST00000617333.3:c.173_211+2147del
ENST00000617938.4:c.173_211+2147del
ENST00000621359.2:c.173_211+2147del
NM_000251.2:c.173_211+2147del , LRG_218t1:c.173_211+2147del
NM_001258281.1:c.-26_13+2147del
XM_005264332.2:c.173_211+2147del
XM_011532867.1:c.173_211+2147del
XR_939685.1:n.245_283+2147del
XM_005264332.4:c.173_211+2147del
XM_011532867.2:c.173_211+2147del
XR_001738747.2:n.235_273+2147del
XR_939685.2:n.235_273+2147del
NM_000251.3:c.173_211+2147del