Canonical Allele Identifier: CA2586964912

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673416
• ClinVar RCV Id: RCV003450139

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478422_47478425dup , CM000664.2:g.47478422_47478425dup	GRCh38
NC_000002.11:g.47705561_47705564dup , CM000664.1:g.47705561_47705564dup	GRCh37
NC_000002.10:g.47559065_47559068dup	NCBI36
NG_007110.2:g.80299_80302dup , LRG_218:g.80299_80302dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2361_2364dup	ENSP00000495641.2:p.Ala789TyrfsTer11
ENST00000233146.7:c.2361_2364dup MANE Select	ENSP00000233146.2:p.Ala789TyrfsTer11
ENST00000543555.6:c.2163_2166dup	ENSP00000442697.1:p.Ala723TyrfsTer11
ENST00000644092.1:c.*661_*664dup	ENSP00000496351.1:n.*661_*664dup
ENST00000644900.1:c.214_217dup
ENST00000645339.1:c.2361_2364dup	ENSP00000496441.1:p.Ala789TyrfsTer11
ENST00000645506.1:c.2361_2364dup	ENSP00000495455.1:p.Ala789TyrfsTer11
ENST00000646415.1:c.2361_2364dup	ENSP00000495543.1:p.Ala789TyrfsTer11
ENST00000233146.6:c.2361_2364dup	ENSP00000233146.2:p.Ala789TyrfsTer11
ENST00000406134.5:c.2361_2364dup	ENSP00000384199.1:p.Ala789TyrfsTer11
ENST00000543555.5:c.2163_2166dup	ENSP00000442697.1:p.Ala723TyrfsTer11
ENST00000610696.4:c.*757_*760dup	ENSP00000483159.1:n.*757_*760dup
ENST00000613514.4:c.*901_*904dup	ENSP00000484137.1:n.*901_*904dup
ENST00000617333.3:c.*1127_*1130dup	ENSP00000482468.1:n.*1127_*1130dup
ENST00000617938.4:c.*1333_*1336dup	ENSP00000481158.1:n.*1333_*1336dup
ENST00000621359.2:c.2360_2363dup	ENSP00000481416.1:p.Pro789ThrfsTer?
NM_000251.2:c.2361_2364dup , LRG_218t1:c.2361_2364dup	NP_000242.1:p.Ala789TyrfsTer11
NM_001258281.1:c.2163_2166dup	NP_001245210.1:p.Ala723TyrfsTer11
XM_005264332.2:c.2361_2364dup	XP_005264389.2:p.Ala789TyrfsTer11
XM_011532867.1:c.2361_2364dup	XP_011531169.1:p.Ala789TyrfsTer11
XR_939685.1:n.2433_2436dup
XM_005264332.4:c.2361_2364dup	XP_005264389.2:p.Ala789TyrfsTer11
XM_011532867.2:c.2361_2364dup	XP_011531169.1:p.Ala789TyrfsTer11
XR_001738747.2:n.2423_2426dup
XR_939685.2:n.2423_2426dup
NM_000251.3:c.2361_2364dup MANE Select	NP_000242.1:p.Ala789TyrfsTer11