Canonical Allele Identifier: CA2495876053

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480744T= , CM000664.2:g.47480744T=	GRCh38
NC_000002.11:g.47707883T= , CM000664.1:g.47707883T=	GRCh37
NC_000002.10:g.47561387T=	NCBI36
NG_007110.2:g.82621T= , LRG_218:g.82621T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2507T=	ENSP00000495641.2:p.Phe836=
ENST00000233146.7:c.2507T= MANE Select	ENSP00000233146.2:p.Phe836=
ENST00000543555.6:c.2309T=	ENSP00000442697.1:p.Phe770=
ENST00000644092.1:c.*807T=	ENSP00000496351.1:n.*807T=
ENST00000644900.1:c.360T=
ENST00000645339.1:c.2507T=	ENSP00000496441.1:p.Phe836=
ENST00000645506.1:c.2507T=	ENSP00000495455.1:p.Phe836=
ENST00000646415.1:c.2507T=	ENSP00000495543.1:p.Phe836=
ENST00000233146.6:c.2507T=	ENSP00000233146.2:p.Phe836=
ENST00000406134.5:c.2507T=	ENSP00000384199.1:p.Phe836=
ENST00000543555.5:c.2309T=	ENSP00000442697.1:p.Phe770=
ENST00000610696.4:c.*903T=	ENSP00000483159.1:n.*903T=
ENST00000613514.4:c.*1047T=	ENSP00000484137.1:n.*1047T=
ENST00000617333.3:c.*1273T=	ENSP00000482468.1:n.*1273T=
ENST00000617938.4:c.*1479T=	ENSP00000481158.1:n.*1479T=
ENST00000621359.2:c.*73T=	ENSP00000481416.1:n.*73T=
NM_000251.2:c.2507T= , LRG_218t1:c.2507T=	NP_000242.1:p.Phe836=
NM_001258281.1:c.2309T=	NP_001245210.1:p.Phe770=
XM_005264332.2:c.2507T=	XP_005264389.2:p.Phe836=
XM_011532867.1:c.2507T=	XP_011531169.1:p.Phe836=
XR_939685.1:n.2579T=
XM_005264332.4:c.2507T=	XP_005264389.2:p.Phe836=
XM_011532867.2:c.2507T=	XP_011531169.1:p.Phe836=
XR_001738747.2:n.2569T=
XR_939685.2:n.2569T=
NM_000251.3:c.2507T= MANE Select	NP_000242.1:p.Phe836=