Canonical Allele Identifier: CA2495873694

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476519_47476523delinsAAAGG , CM000664.2:g.47476519_47476523delinsAAAGG	GRCh38
NC_000002.11:g.47703658_47703662delinsAAAGG , CM000664.1:g.47703658_47703662delinsAAAGG	GRCh37
NC_000002.10:g.47557162_47557166delinsAAAGG	NCBI36
NG_007110.2:g.78396_78400delinsAAAGG , LRG_218:g.78396_78400delinsAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2158_2162delinsAAAGG	ENSP00000495641.2:p.Lys720=
ENST00000233146.7:c.2158_2162delinsAAAGG MANE Select	ENSP00000233146.2:p.Lys720=
ENST00000543555.6:c.1960_1964delinsAAAGG	ENSP00000442697.1:p.Lys654=
ENST00000644092.1:c.*458_*462delinsAAAGG	ENSP00000496351.1:n.*458_*462delinsAAAGG
ENST00000644900.1:c.11_15delinsAAAGG
ENST00000645339.1:c.2158_2162delinsAAAGG	ENSP00000496441.1:p.Lys720=
ENST00000645506.1:c.2158_2162delinsAAAGG	ENSP00000495455.1:p.Lys720=
ENST00000646415.1:c.2158_2162delinsAAAGG	ENSP00000495543.1:p.Lys720=
ENST00000233146.6:c.2158_2162delinsAAAGG	ENSP00000233146.2:p.Lys720=
ENST00000406134.5:c.2158_2162delinsAAAGG	ENSP00000384199.1:p.Lys720=
ENST00000543555.5:c.1960_1964delinsAAAGG	ENSP00000442697.1:p.Lys654=
ENST00000610696.4:c.*554_*558delinsAAAGG	ENSP00000483159.1:n.*554_*558delinsAAAGG
ENST00000613514.4:c.*698_*702delinsAAAGG	ENSP00000484137.1:n.*698_*702delinsAAAGG
ENST00000617333.3:c.*924_*928delinsAAAGG	ENSP00000482468.1:n.*924_*928delinsAAAGG
ENST00000617938.4:c.*1130_*1134delinsAAAGG	ENSP00000481158.1:n.*1130_*1134delinsAAAGG
ENST00000621359.2:c.2158_2162delinsAAAGG	ENSP00000481416.1:p.Lys720=
NM_000251.2:c.2158_2162delinsAAAGG , LRG_218t1:c.2158_2162delinsAAAGG	NP_000242.1:p.Lys720=
NM_001258281.1:c.1960_1964delinsAAAGG	NP_001245210.1:p.Lys654=
XM_005264332.2:c.2158_2162delinsAAAGG	XP_005264389.2:p.Lys720=
XM_011532867.1:c.2158_2162delinsAAAGG	XP_011531169.1:p.Lys720=
XR_939685.1:n.2230_2234delinsAAAGG
XM_005264332.4:c.2158_2162delinsAAAGG	XP_005264389.2:p.Lys720=
XM_011532867.2:c.2158_2162delinsAAAGG	XP_011531169.1:p.Lys720=
XR_001738747.2:n.2220_2224delinsAAAGG
XR_939685.2:n.2220_2224delinsAAAGG
NM_000251.3:c.2158_2162delinsAAAGG MANE Select	NP_000242.1:p.Lys720=