Canonical Allele Identifier: CA1139532072

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482779_47482950del , CM000664.2:g.47482779_47482950del	GRCh38
NC_000002.11:g.47709918_47710089del , CM000664.1:g.47709918_47710089del	GRCh37
NC_000002.10:g.47563422_47563593del	NCBI36
NG_007110.2:g.84656_84827del , LRG_218:g.84656_84827del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1908_2634+2079del	ENSP00000495641.2:n.2634+1908_2634+2079de...
ENST00000233146.7:c.2635_*1del MANE Select	ENSP00000233146.2:n.[c.2635_*1del;Gln879L...
ENST00000543555.6:c.2437_*1del	ENSP00000442697.1:n.[c.2437_*1del;Gln813L...
ENST00000644092.1:c.*934+1908_*934+2079del	ENSP00000496351.1:n.*934+1908_*934+2079de...
ENST00000644900.1:c.487+1908_487+2079del
ENST00000645339.1:c.2634+1908_2634+2079del	ENSP00000496441.1:n.2634+1908_2634+2079de...
ENST00000645506.1:c.2634+1908_2634+2079del	ENSP00000495455.1:n.2634+1908_2634+2079de...
ENST00000646415.1:c.2634+1908_2634+2079del	ENSP00000495543.1:n.2634+1908_2634+2079de...
ENST00000233146.6:c.2635_*1del	ENSP00000233146.2:n.[c.2635_*1del;Gln879L...
ENST00000406134.5:c.2634+1908_2634+2079del	ENSP00000384199.1:n.2634+1908_2634+2079de...
ENST00000461394.5:n.75+1908_75+2079del
ENST00000543555.5:c.2437_*1del	ENSP00000442697.1:n.[c.2437_*1del;Gln813L...
ENST00000610696.4:c.*1031_*1202del	ENSP00000483159.1:n.*1031_*1202del
ENST00000613514.4:c.*1175_*1346del	ENSP00000484137.1:n.*1175_*1346del
ENST00000617333.3:c.*1401_*1572del	ENSP00000482468.1:n.*1401_*1572del
ENST00000617938.4:c.*1607_*1778del	ENSP00000481158.1:n.*1607_*1778del
ENST00000621359.2:c.*201_*372del	ENSP00000481416.1:n.*201_*372del
NM_000251.2:c.2635_*1del , LRG_218t1:c.2635_*1del	NP_000242.1:n.[c.2635_*1del;Gln879LysfsTe...
NM_001258281.1:c.2437_*1del	NP_001245210.1:n.[c.2437_*1del;Gln813Lysf...
XM_005264332.2:c.2634+1908_2634+2079del	XP_005264389.2:n.2634+1908_2634+2079del
XM_011532867.1:c.2634+1908_2634+2079del	XP_011531169.1:n.2634+1908_2634+2079del
XR_939685.1:n.2706+1908_2706+2079del
XM_005264332.4:c.2634+1908_2634+2079del	XP_005264389.2:n.2634+1908_2634+2079del
XM_011532867.2:c.2634+1908_2634+2079del	XP_011531169.1:n.2634+1908_2634+2079del
XR_001738747.2:n.2696+1908_2696+2079del
XR_939685.2:n.2696+1908_2696+2079del
NM_000251.3:c.2635_*1del MANE Select	NP_000242.1:n.[c.2635_*1del;Gln879LysfsTe...