Canonical Allele Identifier: CA2580066891

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1789507
• ClinVar RCV Id: RCV002448070

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478379_47478401del , CM000664.2:g.47478379_47478401del	GRCh38
NC_000002.11:g.47705518_47705540del , CM000664.1:g.47705518_47705540del	GRCh37
NC_000002.10:g.47559022_47559044del	NCBI36
NG_007110.2:g.80256_80278del , LRG_218:g.80256_80278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2318_2340del	ENSP00000495641.2:p.Lys773SerfsTer6
ENST00000233146.7:c.2318_2340del MANE Select	ENSP00000233146.2:p.Lys773SerfsTer6
ENST00000543555.6:c.2120_2142del	ENSP00000442697.1:p.Lys707SerfsTer6
ENST00000644092.1:c.*618_*640del	ENSP00000496351.1:n.*618_*640del
ENST00000644900.1:c.171_193del
ENST00000645339.1:c.2318_2340del	ENSP00000496441.1:p.Lys773SerfsTer6
ENST00000645506.1:c.2318_2340del	ENSP00000495455.1:p.Lys773SerfsTer6
ENST00000646415.1:c.2318_2340del	ENSP00000495543.1:p.Lys773SerfsTer6
ENST00000233146.6:c.2318_2340del	ENSP00000233146.2:p.Lys773SerfsTer6
ENST00000406134.5:c.2318_2340del	ENSP00000384199.1:p.Lys773SerfsTer6
ENST00000543555.5:c.2120_2142del	ENSP00000442697.1:p.Lys707SerfsTer6
ENST00000610696.4:c.*714_*736del	ENSP00000483159.1:n.*714_*736del
ENST00000613514.4:c.*858_*880del	ENSP00000484137.1:n.*858_*880del
ENST00000617333.3:c.*1084_*1106del	ENSP00000482468.1:n.*1084_*1106del
ENST00000617938.4:c.*1290_*1312del	ENSP00000481158.1:n.*1290_*1312del
ENST00000621359.2:c.2318_2340del	ENSP00000481416.1:p.Lys773SerfsTer?
NM_000251.2:c.2318_2340del , LRG_218t1:c.2318_2340del	NP_000242.1:p.Lys773SerfsTer6
NM_001258281.1:c.2120_2142del	NP_001245210.1:p.Lys707SerfsTer6
XM_005264332.2:c.2318_2340del	XP_005264389.2:p.Lys773SerfsTer6
XM_011532867.1:c.2318_2340del	XP_011531169.1:p.Lys773SerfsTer6
XR_939685.1:n.2390_2412del
XM_005264332.4:c.2318_2340del	XP_005264389.2:p.Lys773SerfsTer6
XM_011532867.2:c.2318_2340del	XP_011531169.1:p.Lys773SerfsTer6
XR_001738747.2:n.2380_2402del
XR_939685.2:n.2380_2402del
NM_000251.3:c.2318_2340del MANE Select	NP_000242.1:p.Lys773SerfsTer6