Canonical Allele Identifier: CA2535957318
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47483179_47483181del , CM000664.2:g.47483179_47483181del GRCh38
NC_000002.11:g.47710318_47710320del , CM000664.1:g.47710318_47710320del GRCh37
NC_000002.10:g.47563822_47563824del NCBI36
NG_007110.2:g.85056_85058del , LRG_218:g.85056_85058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2634+2308_2634+2310del ENSP00000495641.2:n.2634+2308_2634+2310del
ENST00000233146.7:c.*230_*232del MANE Select ENSP00000233146.2:n.*230_*232del
ENST00000543555.6:c.*230_*232del ENSP00000442697.1:n.*230_*232del
ENST00000644092.1:c.*934+2308_*934+2310del ENSP00000496351.1:n.*934+2308_*934+2310del
ENST00000644900.1:c.487+2308_487+2310del
ENST00000645339.1:c.2634+2308_2634+2310del ENSP00000496441.1:n.2634+2308_2634+2310del
ENST00000645506.1:c.2634+2308_2634+2310del ENSP00000495455.1:n.2634+2308_2634+2310del
ENST00000646415.1:c.2634+2308_2634+2310del ENSP00000495543.1:n.2634+2308_2634+2310del
ENST00000233146.6:c.*230_*232del ENSP00000233146.2:n.*230_*232del
ENST00000406134.5:c.2634+2308_2634+2310del ENSP00000384199.1:n.2634+2308_2634+2310del
ENST00000461394.5:n.75+2308_75+2310del
ENST00000543555.5:c.*230_*232del ENSP00000442697.1:n.*230_*232del
NM_000251.2:c.*230_*232del , LRG_218t1:c.*230_*232del NP_000242.1:n.*230_*232del
NM_001258281.1:c.*230_*232del NP_001245210.1:n.*230_*232del
XM_005264332.2:c.2634+2308_2634+2310del XP_005264389.2:n.2634+2308_2634+2310del
XM_011532867.1:c.2634+2308_2634+2310del XP_011531169.1:n.2634+2308_2634+2310del
XR_939685.1:n.2706+2308_2706+2310del
XM_005264332.4:c.2634+2308_2634+2310del XP_005264389.2:n.2634+2308_2634+2310del
XM_011532867.2:c.2634+2308_2634+2310del XP_011531169.1:n.2634+2308_2634+2310del
XR_001738747.2:n.2696+2308_2696+2310del
XR_939685.2:n.2696+2308_2696+2310del
NM_000251.3:c.*230_*232del MANE Select NP_000242.1:n.*230_*232del