Canonical Allele Identifier: CA2576960988

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475044_47475046dup , CM000664.2:g.47475044_47475046dup	GRCh38
NC_000002.11:g.47702183_47702185dup , CM000664.1:g.47702183_47702185dup	GRCh37
NC_000002.10:g.47555687_47555689dup	NCBI36
NG_007110.2:g.76921_76923dup , LRG_218:g.76921_76923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1779_1781dup	ENSP00000495641.2:p.Thr594_Leu595insThr
ENST00000233146.7:c.1779_1781dup MANE Select	ENSP00000233146.2:p.Thr594_Leu595insThr
ENST00000543555.6:c.1581_1583dup	ENSP00000442697.1:p.Thr528_Leu529insThr
ENST00000644092.1:c.*79_*81dup	ENSP00000496351.1:n.*79_*81dup
ENST00000645339.1:c.1779_1781dup	ENSP00000496441.1:p.Thr594_Leu595insThr
ENST00000645506.1:c.1779_1781dup	ENSP00000495455.1:p.Thr594_Leu595insThr
ENST00000646415.1:c.1779_1781dup	ENSP00000495543.1:p.Thr594_Leu595insThr
ENST00000233146.6:c.1779_1781dup	ENSP00000233146.2:p.Thr594_Leu595insThr
ENST00000406134.5:c.1779_1781dup	ENSP00000384199.1:p.Thr594_Leu595insThr
ENST00000543555.5:c.1581_1583dup	ENSP00000442697.1:p.Thr528_Leu529insThr
ENST00000610696.4:c.*175_*177dup	ENSP00000483159.1:n.*175_*177dup
ENST00000613514.4:c.*319_*321dup	ENSP00000484137.1:n.*319_*321dup
ENST00000617333.3:c.*545_*547dup	ENSP00000482468.1:n.*545_*547dup
ENST00000617938.4:c.*751_*753dup	ENSP00000481158.1:n.*751_*753dup
ENST00000621359.2:c.1779_1781dup	ENSP00000481416.1:p.Thr594_Leu595insThr
NM_000251.2:c.1779_1781dup , LRG_218t1:c.1779_1781dup	NP_000242.1:p.Thr594_Leu595insThr
NM_001258281.1:c.1581_1583dup	NP_001245210.1:p.Thr528_Leu529insThr
XM_005264332.2:c.1779_1781dup	XP_005264389.2:p.Thr594_Leu595insThr
XM_011532867.1:c.1779_1781dup	XP_011531169.1:p.Thr594_Leu595insThr
XR_939685.1:n.1851_1853dup
XM_005264332.4:c.1779_1781dup	XP_005264389.2:p.Thr594_Leu595insThr
XM_011532867.2:c.1779_1781dup	XP_011531169.1:p.Thr594_Leu595insThr
XR_001738747.2:n.1841_1843dup
XR_939685.2:n.1841_1843dup
NM_000251.3:c.1779_1781dup MANE Select	NP_000242.1:p.Thr594_Leu595insThr