Canonical Allele Identifier: CA46707687

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480739_47480745delinsCTAATTT , CM000664.2:g.47480739_47480745delinsCTAATTT	GRCh38
NC_000002.11:g.47707878_47707884delinsCTAATTT , CM000664.1:g.47707878_47707884delinsCTAATTT	GRCh37
NC_000002.10:g.47561382_47561388delinsCTAATTT	NCBI36
NG_007110.2:g.82616_82622delinsCTAATTT , LRG_218:g.82616_82622delinsCTAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2502_2508delinsCTAATTT	ENSP00000495641.2:p.Ala835Ter
ENST00000233146.7:c.2502_2508delinsCTAATTT MANE Select	ENSP00000233146.2:p.Ala835Ter
ENST00000543555.6:c.2304_2310delinsCTAATTT	ENSP00000442697.1:p.Ala769Ter
ENST00000644092.1:c.*802_*808delinsCTAATTT	ENSP00000496351.1:n.*802_*808delinsCTAATTT
ENST00000644900.1:c.355_361delinsCTAATTT
ENST00000645339.1:c.2502_2508delinsCTAATTT	ENSP00000496441.1:p.Ala835Ter
ENST00000645506.1:c.2502_2508delinsCTAATTT	ENSP00000495455.1:p.Ala835Ter
ENST00000646415.1:c.2502_2508delinsCTAATTT	ENSP00000495543.1:p.Ala835Ter
ENST00000233146.6:c.2502_2508delinsCTAATTT	ENSP00000233146.2:p.Ala835Ter
ENST00000406134.5:c.2502_2508delinsCTAATTT	ENSP00000384199.1:p.Ala835Ter
ENST00000543555.5:c.2304_2310delinsCTAATTT	ENSP00000442697.1:p.Ala769Ter
ENST00000610696.4:c.*898_*904delinsCTAATTT	ENSP00000483159.1:n.*898_*904delinsCTAATTT
ENST00000613514.4:c.*1042_*1048delinsCTAATTT	ENSP00000484137.1:n.*1042_*1048delinsCTAATTT
ENST00000617333.3:c.*1268_*1274delinsCTAATTT	ENSP00000482468.1:n.*1268_*1274delinsCTAATTT
ENST00000617938.4:c.*1474_*1480delinsCTAATTT	ENSP00000481158.1:n.*1474_*1480delinsCTAATTT
ENST00000621359.2:c.*68_*74delinsCTAATTT	ENSP00000481416.1:n.*68_*74delinsCTAATTT
NM_000251.2:c.2502_2508delinsCTAATTT , LRG_218t1:c.2502_2508delinsCTAATTT	NP_000242.1:p.Ala835Ter
NM_001258281.1:c.2304_2310delinsCTAATTT	NP_001245210.1:p.Ala769Ter
XM_005264332.2:c.2502_2508delinsCTAATTT	XP_005264389.2:p.Ala835Ter
XM_011532867.1:c.2502_2508delinsCTAATTT	XP_011531169.1:p.Ala835Ter
XR_939685.1:n.2574_2580delinsCTAATTT
XM_005264332.4:c.2502_2508delinsCTAATTT	XP_005264389.2:p.Ala835Ter
XM_011532867.2:c.2502_2508delinsCTAATTT	XP_011531169.1:p.Ala835Ter
XR_001738747.2:n.2564_2570delinsCTAATTT
XR_939685.2:n.2564_2570delinsCTAATTT
NM_000251.3:c.2502_2508delinsCTAATTT MANE Select	NP_000242.1:p.Ala835Ter