Canonical Allele Identifier: CA658760393
Gene: MSH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47429808_47429809insA , CM000664.2:g.47429808_47429809insA GRCh38
NC_000002.11:g.47656947_47656948insA , CM000664.1:g.47656947_47656948insA GRCh37
NC_000002.10:g.47510451_47510452insA NCBI36
NG_007110.2:g.31685_31686insA , LRG_218:g.31685_31686insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1143_1144insA ENSP00000495641.2:p.Arg382ThrfsTer7
ENST00000233146.7:c.1143_1144insA MANE Select ENSP00000233146.2:p.Arg382ThrfsTer7
ENST00000543555.6:c.945_946insA ENSP00000442697.1:p.Arg316ThrfsTer7
ENST00000644092.1:c.1143_1144insA ENSP00000496351.1:p.Arg382ThrfsTer7
ENST00000645339.1:c.1143_1144insA ENSP00000496441.1:p.Arg382ThrfsTer7
ENST00000645506.1:c.1143_1144insA ENSP00000495455.1:p.Arg382ThrfsTer7
ENST00000646415.1:c.1143_1144insA ENSP00000495543.1:p.Arg382ThrfsTer7
ENST00000233146.6:c.1143_1144insA ENSP00000233146.2:p.Arg382ThrfsTer7
ENST00000406134.5:c.1143_1144insA ENSP00000384199.1:p.Arg382ThrfsTer7
ENST00000543555.5:c.945_946insA ENSP00000442697.1:p.Arg316ThrfsTer7
ENST00000610696.4:c.1143_1144insA ENSP00000483159.1:p.Arg382ThrfsTer7
ENST00000613514.4:c.1143_1144insA ENSP00000484137.1:p.Arg382ThrfsTer7
ENST00000617333.3:c.1142_1143insA ENSP00000482468.1:p.Phe381LeufsTer?
ENST00000617938.4:c.*115_*116insA ENSP00000481158.1:n.*115_*116insA
ENST00000621359.2:c.1143_1144insA ENSP00000481416.1:p.Arg382ThrfsTer7
NM_000251.2:c.1143_1144insA , LRG_218t1:c.1143_1144insA NP_000242.1:p.Arg382ThrfsTer7
NM_001258281.1:c.945_946insA NP_001245210.1:p.Arg316ThrfsTer7
XM_005264332.2:c.1143_1144insA XP_005264389.2:p.Arg382ThrfsTer7
XM_011532867.1:c.1143_1144insA XP_011531169.1:p.Arg382ThrfsTer7
XR_939685.1:n.1215_1216insA
XM_005264332.4:c.1143_1144insA XP_005264389.2:p.Arg382ThrfsTer7
XM_011532867.2:c.1143_1144insA XP_011531169.1:p.Arg382ThrfsTer7
XR_001738747.2:n.1205_1206insA
XR_939685.2:n.1205_1206insA
NM_000251.3:c.1143_1144insA MANE Select NP_000242.1:p.Arg382ThrfsTer7