Canonical Allele Identifier: CA2495873705

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476537A= , CM000664.2:g.47476537A=	GRCh38
NC_000002.11:g.47703676A= , CM000664.1:g.47703676A=	GRCh37
NC_000002.10:g.47557180A=	NCBI36
NG_007110.2:g.78414A= , LRG_218:g.78414A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2176A=	ENSP00000495641.2:p.Met726=
ENST00000233146.7:c.2176A= MANE Select	ENSP00000233146.2:p.Met726=
ENST00000543555.6:c.1978A=	ENSP00000442697.1:p.Met660=
ENST00000644092.1:c.*476A=	ENSP00000496351.1:n.*476A=
ENST00000644900.1:c.29A=
ENST00000645339.1:c.2176A=	ENSP00000496441.1:p.Met726=
ENST00000645506.1:c.2176A=	ENSP00000495455.1:p.Met726=
ENST00000646415.1:c.2176A=	ENSP00000495543.1:p.Met726=
ENST00000233146.6:c.2176A=	ENSP00000233146.2:p.Met726=
ENST00000406134.5:c.2176A=	ENSP00000384199.1:p.Met726=
ENST00000543555.5:c.1978A=	ENSP00000442697.1:p.Met660=
ENST00000610696.4:c.*572A=	ENSP00000483159.1:n.*572A=
ENST00000613514.4:c.*716A=	ENSP00000484137.1:n.*716A=
ENST00000617333.3:c.*942A=	ENSP00000482468.1:n.*942A=
ENST00000617938.4:c.*1148A=	ENSP00000481158.1:n.*1148A=
ENST00000621359.2:c.2176A=	ENSP00000481416.1:p.Met726=
NM_000251.2:c.2176A= , LRG_218t1:c.2176A=	NP_000242.1:p.Met726=
NM_001258281.1:c.1978A=	NP_001245210.1:p.Met660=
XM_005264332.2:c.2176A=	XP_005264389.2:p.Met726=
XM_011532867.1:c.2176A=	XP_011531169.1:p.Met726=
XR_939685.1:n.2248A=
XM_005264332.4:c.2176A=	XP_005264389.2:p.Met726=
XM_011532867.2:c.2176A=	XP_011531169.1:p.Met726=
XR_001738747.2:n.2238A=
XR_939685.2:n.2238A=
NM_000251.3:c.2176A= MANE Select	NP_000242.1:p.Met726=