Canonical Allele Identifier: CA2495874619

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478452_47478456delinsTAATA , CM000664.2:g.47478452_47478456delinsTAATA	GRCh38
NC_000002.11:g.47705591_47705595delinsTAATA , CM000664.1:g.47705591_47705595delinsTAATA	GRCh37
NC_000002.10:g.47559095_47559099delinsTAATA	NCBI36
NG_007110.2:g.80329_80333delinsTAATA , LRG_218:g.80329_80333delinsTAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2391_2395delinsTAATA	ENSP00000495641.2:p.Val797=
ENST00000233146.7:c.2391_2395delinsTAATA MANE Select	ENSP00000233146.2:p.Val797=
ENST00000543555.6:c.2193_2197delinsTAATA	ENSP00000442697.1:p.Val731=
ENST00000644092.1:c.*691_*695delinsTAATA	ENSP00000496351.1:n.*691_*695delinsTAATA
ENST00000644900.1:c.244_248delinsTAATA
ENST00000645339.1:c.2391_2395delinsTAATA	ENSP00000496441.1:p.Val797=
ENST00000645506.1:c.2391_2395delinsTAATA	ENSP00000495455.1:p.Val797=
ENST00000646415.1:c.2391_2395delinsTAATA	ENSP00000495543.1:p.Val797=
ENST00000233146.6:c.2391_2395delinsTAATA	ENSP00000233146.2:p.Val797=
ENST00000406134.5:c.2391_2395delinsTAATA	ENSP00000384199.1:p.Val797=
ENST00000543555.5:c.2193_2197delinsTAATA	ENSP00000442697.1:p.Val731=
ENST00000610696.4:c.*787_*791delinsTAATA	ENSP00000483159.1:n.*787_*791delinsTAATA
ENST00000613514.4:c.*931_*935delinsTAATA	ENSP00000484137.1:n.*931_*935delinsTAATA
ENST00000617333.3:c.*1157_*1161delinsTAATA	ENSP00000482468.1:n.*1157_*1161delinsTAATA
ENST00000617938.4:c.*1363_*1367delinsTAATA	ENSP00000481158.1:n.*1363_*1367delinsTAATA
ENST00000621359.2:c.2390_2394delinsTAATA	ENSP00000481416.1:p.Leu797=
NM_000251.2:c.2391_2395delinsTAATA , LRG_218t1:c.2391_2395delinsTAATA	NP_000242.1:p.Val797=
NM_001258281.1:c.2193_2197delinsTAATA	NP_001245210.1:p.Val731=
XM_005264332.2:c.2391_2395delinsTAATA	XP_005264389.2:p.Val797=
XM_011532867.1:c.2391_2395delinsTAATA	XP_011531169.1:p.Val797=
XR_939685.1:n.2463_2467delinsTAATA
XM_005264332.4:c.2391_2395delinsTAATA	XP_005264389.2:p.Val797=
XM_011532867.2:c.2391_2395delinsTAATA	XP_011531169.1:p.Val797=
XR_001738747.2:n.2453_2457delinsTAATA
XR_939685.2:n.2453_2457delinsTAATA
NM_000251.3:c.2391_2395delinsTAATA MANE Select	NP_000242.1:p.Val797=