Canonical Allele Identifier: CA2495870085

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470968_47470969delinsAT , CM000664.2:g.47470968_47470969delinsAT	GRCh38
NC_000002.11:g.47698107_47698108delinsAT , CM000664.1:g.47698107_47698108delinsAT	GRCh37
NC_000002.10:g.47551611_47551612delinsAT	NCBI36
NG_007110.2:g.72845_72846delinsAT , LRG_218:g.72845_72846delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1665_1666delinsAT	ENSP00000495641.2:p.Lys555=
ENST00000233146.7:c.1665_1666delinsAT MANE Select	ENSP00000233146.2:p.Lys555=
ENST00000543555.6:c.1467_1468delinsAT	ENSP00000442697.1:p.Lys489=
ENST00000644092.1:c.1662-20_1662-19delinsAT	ENSP00000496351.1:n.1662-20_1662-19delins...
ENST00000645339.1:c.1665_1666delinsAT	ENSP00000496441.1:p.Lys555=
ENST00000645506.1:c.1665_1666delinsAT	ENSP00000495455.1:p.Lys555=
ENST00000646415.1:c.1665_1666delinsAT	ENSP00000495543.1:p.Lys555=
ENST00000233146.6:c.1665_1666delinsAT	ENSP00000233146.2:p.Lys555=
ENST00000406134.5:c.1665_1666delinsAT	ENSP00000384199.1:p.Lys555=
ENST00000543555.5:c.1467_1468delinsAT	ENSP00000442697.1:p.Lys489=
ENST00000610696.4:c.*61_*62delinsAT	ENSP00000483159.1:n.*61_*62delinsAT
ENST00000613514.4:c.*205_*206delinsAT	ENSP00000484137.1:n.*205_*206delinsAT
ENST00000617333.3:c.*431_*432delinsAT	ENSP00000482468.1:n.*431_*432delinsAT
ENST00000617938.4:c.*637_*638delinsAT	ENSP00000481158.1:n.*637_*638delinsAT
ENST00000621359.2:c.1665_1666delinsAT	ENSP00000481416.1:p.Lys555=
NM_000251.2:c.1665_1666delinsAT , LRG_218t1:c.1665_1666delinsAT	NP_000242.1:p.Lys555=
NM_001258281.1:c.1467_1468delinsAT	NP_001245210.1:p.Lys489=
XM_005264332.2:c.1665_1666delinsAT	XP_005264389.2:p.Lys555=
XM_011532867.1:c.1665_1666delinsAT	XP_011531169.1:p.Lys555=
XR_939685.1:n.1737_1738delinsAT
XM_005264332.4:c.1665_1666delinsAT	XP_005264389.2:p.Lys555=
XM_011532867.2:c.1665_1666delinsAT	XP_011531169.1:p.Lys555=
XR_001738747.2:n.1727_1728delinsAT
XR_939685.2:n.1727_1728delinsAT
NM_000251.3:c.1665_1666delinsAT MANE Select	NP_000242.1:p.Lys555=