Canonical Allele Identifier: CA346730185

Gene: MSH2

Linked Data

• MyVariant Identifiers: chr2:g.47705599T>G (hg19) ; chr2:g.47478460T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478460T>G , CM000664.2:g.47478460T>G	GRCh38
NC_000002.11:g.47705599T>G , CM000664.1:g.47705599T>G	GRCh37
NC_000002.10:g.47559103T>G	NCBI36
NG_007110.2:g.80337T>G , LRG_218:g.80337T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2399T>G	ENSP00000495641.2:p.Leu800Arg
ENST00000233146.7:c.2399T>G MANE Select	ENSP00000233146.2:p.Leu800Arg
ENST00000543555.6:c.2201T>G	ENSP00000442697.1:p.Leu734Arg
ENST00000644092.1:c.*699T>G	ENSP00000496351.1:n.*699T>G
ENST00000644900.1:c.252T>G
ENST00000645339.1:c.2399T>G	ENSP00000496441.1:p.Leu800Arg
ENST00000645506.1:c.2399T>G	ENSP00000495455.1:p.Leu800Arg
ENST00000646415.1:c.2399T>G	ENSP00000495543.1:p.Leu800Arg
ENST00000233146.6:c.2399T>G	ENSP00000233146.2:p.Leu800Arg
ENST00000406134.5:c.2399T>G	ENSP00000384199.1:p.Leu800Arg
ENST00000543555.5:c.2201T>G	ENSP00000442697.1:p.Leu734Arg
ENST00000610696.4:c.*795T>G	ENSP00000483159.1:n.*795T>G
ENST00000613514.4:c.*939T>G	ENSP00000484137.1:n.*939T>G
ENST00000617333.3:c.*1165T>G	ENSP00000482468.1:n.*1165T>G
ENST00000617938.4:c.*1371T>G	ENSP00000481158.1:n.*1371T>G
ENST00000621359.2:c.2398T>G	ENSP00000481416.1:p.Tyr800Asp
NM_000251.2:c.2399T>G , LRG_218t1:c.2399T>G	NP_000242.1:p.Leu800Arg
NM_001258281.1:c.2201T>G	NP_001245210.1:p.Leu734Arg
XM_005264332.2:c.2399T>G	XP_005264389.2:p.Leu800Arg
XM_011532867.1:c.2399T>G	XP_011531169.1:p.Leu800Arg
XR_939685.1:n.2471T>G
XM_005264332.4:c.2399T>G	XP_005264389.2:p.Leu800Arg
XM_011532867.2:c.2399T>G	XP_011531169.1:p.Leu800Arg
XR_001738747.2:n.2461T>G
XR_939685.2:n.2461T>G
NM_000251.3:c.2399T>G MANE Select	NP_000242.1:p.Leu800Arg