Canonical Allele Identifier: CA2586964902

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673341
• ClinVar RCV Id: RCV003455966

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478359_47478360dup , CM000664.2:g.47478359_47478360dup	GRCh38
NC_000002.11:g.47705498_47705499dup , CM000664.1:g.47705498_47705499dup	GRCh37
NC_000002.10:g.47559002_47559003dup	NCBI36
NG_007110.2:g.80236_80237dup , LRG_218:g.80236_80237dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2298_2299dup	ENSP00000495641.2:p.Ser767TyrfsTer?
ENST00000233146.7:c.2298_2299dup MANE Select	ENSP00000233146.2:p.Ser767TyrfsTer?
ENST00000543555.6:c.2100_2101dup	ENSP00000442697.1:p.Ser701TyrfsTer?
ENST00000644092.1:c.*598_*599dup	ENSP00000496351.1:n.*598_*599dup
ENST00000644900.1:c.151_152dup
ENST00000645339.1:c.2298_2299dup	ENSP00000496441.1:p.Ser767TyrfsTer?
ENST00000645506.1:c.2298_2299dup	ENSP00000495455.1:p.Ser767TyrfsTer?
ENST00000646415.1:c.2298_2299dup	ENSP00000495543.1:p.Ser767TyrfsTer?
ENST00000233146.6:c.2298_2299dup	ENSP00000233146.2:p.Ser767TyrfsTer?
ENST00000406134.5:c.2298_2299dup	ENSP00000384199.1:p.Ser767TyrfsTer?
ENST00000543555.5:c.2100_2101dup	ENSP00000442697.1:p.Ser701TyrfsTer?
ENST00000610696.4:c.*694_*695dup	ENSP00000483159.1:n.*694_*695dup
ENST00000613514.4:c.*838_*839dup	ENSP00000484137.1:n.*838_*839dup
ENST00000617333.3:c.*1064_*1065dup	ENSP00000482468.1:n.*1064_*1065dup
ENST00000617938.4:c.*1270_*1271dup	ENSP00000481158.1:n.*1270_*1271dup
ENST00000621359.2:c.2298_2299dup	ENSP00000481416.1:p.Ser767TyrfsTer20
NM_000251.2:c.2298_2299dup , LRG_218t1:c.2298_2299dup	NP_000242.1:p.Ser767TyrfsTer?
NM_001258281.1:c.2100_2101dup	NP_001245210.1:p.Ser701TyrfsTer?
XM_005264332.2:c.2298_2299dup	XP_005264389.2:p.Ser767TyrfsTer?
XM_011532867.1:c.2298_2299dup	XP_011531169.1:p.Ser767TyrfsTer?
XR_939685.1:n.2370_2371dup
XM_005264332.4:c.2298_2299dup	XP_005264389.2:p.Ser767TyrfsTer?
XM_011532867.2:c.2298_2299dup	XP_011531169.1:p.Ser767TyrfsTer?
XR_001738747.2:n.2360_2361dup
XR_939685.2:n.2360_2361dup
NM_000251.3:c.2298_2299dup MANE Select	NP_000242.1:p.Ser767TyrfsTer?