Canonical Allele Identifier: CA1139532070
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482779_47483221del , CM000664.2:g.47482779_47483221del GRCh38
NC_000002.11:g.47709918_47710360del , CM000664.1:g.47709918_47710360del GRCh37
NC_000002.10:g.47563422_47563864del NCBI36
NG_007110.2:g.84656_85098del , LRG_218:g.84656_85098del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2634+1908_2634+2350del ENSP00000495641.2:n.2634+1908_2634+2350de...
ENST00000233146.7:c.2635_*272del
ENST00000543555.6:c.2437_*272del
ENST00000644092.1:c.*934+1908_*934+2350del ENSP00000496351.1:n.*934+1908_*934+2350de...
ENST00000644900.1:c.487+1908_487+2350del
ENST00000645339.1:c.2634+1908_2634+2350del ENSP00000496441.1:n.2634+1908_2634+2350de...
ENST00000645506.1:c.2634+1908_2634+2350del ENSP00000495455.1:n.2634+1908_2634+2350de...
ENST00000646415.1:c.2634+1908_2634+2350del ENSP00000495543.1:n.2634+1908_2634+2350de...
ENST00000233146.6:c.2635_*272del
ENST00000406134.5:c.2634+1908_2634+2350del ENSP00000384199.1:n.2634+1908_2634+2350de...
ENST00000461394.5:n.75+1908_75+2350del
ENST00000543555.5:c.2437_*272del
NM_000251.2:c.2635_*272del , LRG_218t1:c.2635_*272del
NM_001258281.1:c.2437_*272del
XM_005264332.2:c.2634+1908_2634+2350del XP_005264389.2:n.2634+1908_2634+2350del
XM_011532867.1:c.2634+1908_2634+2350del XP_011531169.1:n.2634+1908_2634+2350del
XR_939685.1:n.2706+1908_2706+2350del
XM_005264332.4:c.2634+1908_2634+2350del XP_005264389.2:n.2634+1908_2634+2350del
XM_011532867.2:c.2634+1908_2634+2350del XP_011531169.1:n.2634+1908_2634+2350del
XR_001738747.2:n.2696+1908_2696+2350del
XR_939685.2:n.2696+1908_2696+2350del
NM_000251.3:c.2635_*272del