Canonical Allele Identifier: CA2495876024

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480707_47480709delinsCAA , CM000664.2:g.47480707_47480709delinsCAA	GRCh38
NC_000002.11:g.47707846_47707848delinsCAA , CM000664.1:g.47707846_47707848delinsCAA	GRCh37
NC_000002.10:g.47561350_47561352delinsCAA	NCBI36
NG_007110.2:g.82584_82586delinsCAA , LRG_218:g.82584_82586delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2470_2472delinsCAA	ENSP00000495641.2:p.Gln824=
ENST00000233146.7:c.2470_2472delinsCAA MANE Select	ENSP00000233146.2:p.Gln824=
ENST00000543555.6:c.2272_2274delinsCAA	ENSP00000442697.1:p.Gln758=
ENST00000644092.1:c.*770_*772delinsCAA	ENSP00000496351.1:n.*770_*772delinsCAA
ENST00000644900.1:c.323_325delinsCAA
ENST00000645339.1:c.2470_2472delinsCAA	ENSP00000496441.1:p.Gln824=
ENST00000645506.1:c.2470_2472delinsCAA	ENSP00000495455.1:p.Gln824=
ENST00000646415.1:c.2470_2472delinsCAA	ENSP00000495543.1:p.Gln824=
ENST00000233146.6:c.2470_2472delinsCAA	ENSP00000233146.2:p.Gln824=
ENST00000406134.5:c.2470_2472delinsCAA	ENSP00000384199.1:p.Gln824=
ENST00000543555.5:c.2272_2274delinsCAA	ENSP00000442697.1:p.Gln758=
ENST00000610696.4:c.*866_*868delinsCAA	ENSP00000483159.1:n.*866_*868delinsCAA
ENST00000613514.4:c.*1010_*1012delinsCAA	ENSP00000484137.1:n.*1010_*1012delinsCAA
ENST00000617333.3:c.*1236_*1238delinsCAA	ENSP00000482468.1:n.*1236_*1238delinsCAA
ENST00000617938.4:c.*1442_*1444delinsCAA	ENSP00000481158.1:n.*1442_*1444delinsCAA
ENST00000621359.2:c.*36_*38delinsCAA	ENSP00000481416.1:n.*36_*38delinsCAA
NM_000251.2:c.2470_2472delinsCAA , LRG_218t1:c.2470_2472delinsCAA	NP_000242.1:p.Gln824=
NM_001258281.1:c.2272_2274delinsCAA	NP_001245210.1:p.Gln758=
XM_005264332.2:c.2470_2472delinsCAA	XP_005264389.2:p.Gln824=
XM_011532867.1:c.2470_2472delinsCAA	XP_011531169.1:p.Gln824=
XR_939685.1:n.2542_2544delinsCAA
XM_005264332.4:c.2470_2472delinsCAA	XP_005264389.2:p.Gln824=
XM_011532867.2:c.2470_2472delinsCAA	XP_011531169.1:p.Gln824=
XR_001738747.2:n.2532_2534delinsCAA
XR_939685.2:n.2532_2534delinsCAA
NM_000251.3:c.2470_2472delinsCAA MANE Select	NP_000242.1:p.Gln824=