Canonical Allele Identifier: CA2495874580
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478405_47478406delinsAC , CM000664.2:g.47478405_47478406delinsAC GRCh38
NC_000002.11:g.47705544_47705545delinsAC , CM000664.1:g.47705544_47705545delinsAC GRCh37
NC_000002.10:g.47559048_47559049delinsAC NCBI36
NG_007110.2:g.80282_80283delinsAC , LRG_218:g.80282_80283delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2344_2345delinsAC ENSP00000495641.2:p.Thr782=
ENST00000233146.7:c.2344_2345delinsAC MANE Select ENSP00000233146.2:p.Thr782=
ENST00000543555.6:c.2146_2147delinsAC ENSP00000442697.1:p.Thr716=
ENST00000644092.1:c.*644_*645delinsAC ENSP00000496351.1:n.*644_*645delinsAC
ENST00000644900.1:c.197_198delinsAC
ENST00000645339.1:c.2344_2345delinsAC ENSP00000496441.1:p.Thr782=
ENST00000645506.1:c.2344_2345delinsAC ENSP00000495455.1:p.Thr782=
ENST00000646415.1:c.2344_2345delinsAC ENSP00000495543.1:p.Thr782=
ENST00000233146.6:c.2344_2345delinsAC ENSP00000233146.2:p.Thr782=
ENST00000406134.5:c.2344_2345delinsAC ENSP00000384199.1:p.Thr782=
ENST00000543555.5:c.2146_2147delinsAC ENSP00000442697.1:p.Thr716=
ENST00000610696.4:c.*740_*741delinsAC ENSP00000483159.1:n.*740_*741delinsAC
ENST00000613514.4:c.*884_*885delinsAC ENSP00000484137.1:n.*884_*885delinsAC
ENST00000617333.3:c.*1110_*1111delinsAC ENSP00000482468.1:n.*1110_*1111delinsAC
ENST00000617938.4:c.*1316_*1317delinsAC ENSP00000481158.1:n.*1316_*1317delinsAC
ENST00000621359.2:c.2344_2345delinsAC ENSP00000481416.1:p.Thr782=
NM_000251.2:c.2344_2345delinsAC , LRG_218t1:c.2344_2345delinsAC NP_000242.1:p.Thr782=
NM_001258281.1:c.2146_2147delinsAC NP_001245210.1:p.Thr716=
XM_005264332.2:c.2344_2345delinsAC XP_005264389.2:p.Thr782=
XM_011532867.1:c.2344_2345delinsAC XP_011531169.1:p.Thr782=
XR_939685.1:n.2416_2417delinsAC
XM_005264332.4:c.2344_2345delinsAC XP_005264389.2:p.Thr782=
XM_011532867.2:c.2344_2345delinsAC XP_011531169.1:p.Thr782=
XR_001738747.2:n.2406_2407delinsAC
XR_939685.2:n.2406_2407delinsAC
NM_000251.3:c.2344_2345delinsAC MANE Select NP_000242.1:p.Thr782=