Canonical Allele Identifier: CA2495873610

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476430A= , CM000664.2:g.47476430A=	GRCh38
NC_000002.11:g.47703569A= , CM000664.1:g.47703569A=	GRCh37
NC_000002.10:g.47557073A=	NCBI36
NG_007110.2:g.78307A= , LRG_218:g.78307A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2069A=	ENSP00000495641.2:p.Gln690=
ENST00000233146.7:c.2069A= MANE Select	ENSP00000233146.2:p.Gln690=
ENST00000543555.6:c.1871A=	ENSP00000442697.1:p.Gln624=
ENST00000644092.1:c.*369A=	ENSP00000496351.1:n.*369A=
ENST00000645339.1:c.2069A=	ENSP00000496441.1:p.Gln690=
ENST00000645506.1:c.2069A=	ENSP00000495455.1:p.Gln690=
ENST00000646415.1:c.2069A=	ENSP00000495543.1:p.Gln690=
ENST00000233146.6:c.2069A=	ENSP00000233146.2:p.Gln690=
ENST00000406134.5:c.2069A=	ENSP00000384199.1:p.Gln690=
ENST00000543555.5:c.1871A=	ENSP00000442697.1:p.Gln624=
ENST00000610696.4:c.*465A=	ENSP00000483159.1:n.*465A=
ENST00000613514.4:c.*609A=	ENSP00000484137.1:n.*609A=
ENST00000617333.3:c.*835A=	ENSP00000482468.1:n.*835A=
ENST00000617938.4:c.*1041A=	ENSP00000481158.1:n.*1041A=
ENST00000621359.2:c.2069A=	ENSP00000481416.1:p.Gln690=
NM_000251.2:c.2069A= , LRG_218t1:c.2069A=	NP_000242.1:p.Gln690=
NM_001258281.1:c.1871A=	NP_001245210.1:p.Gln624=
XM_005264332.2:c.2069A=	XP_005264389.2:p.Gln690=
XM_011532867.1:c.2069A=	XP_011531169.1:p.Gln690=
XR_939685.1:n.2141A=
XM_005264332.4:c.2069A=	XP_005264389.2:p.Gln690=
XM_011532867.2:c.2069A=	XP_011531169.1:p.Gln690=
XR_001738747.2:n.2131A=
XR_939685.2:n.2131A=
NM_000251.3:c.2069A= MANE Select	NP_000242.1:p.Gln690=