Canonical Allele Identifier: CA2495869936

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47471049_47471051delinsCAA , CM000664.2:g.47471049_47471051delinsCAA	GRCh38
NC_000002.11:g.47698188_47698190delinsCAA , CM000664.1:g.47698188_47698190delinsCAA	GRCh37
NC_000002.10:g.47551692_47551694delinsCAA	NCBI36
NG_007110.2:g.72926_72928delinsCAA , LRG_218:g.72926_72928delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1746_1748delinsCAA	ENSP00000495641.2:p.Val582=
ENST00000233146.7:c.1746_1748delinsCAA MANE Select	ENSP00000233146.2:p.Val582=
ENST00000543555.6:c.1548_1550delinsCAA	ENSP00000442697.1:p.Val516=
ENST00000644092.1:c.*46_*48delinsCAA	ENSP00000496351.1:n.*46_*48delinsCAA
ENST00000645339.1:c.1746_1748delinsCAA	ENSP00000496441.1:p.Val582=
ENST00000645506.1:c.1746_1748delinsCAA	ENSP00000495455.1:p.Val582=
ENST00000646415.1:c.1746_1748delinsCAA	ENSP00000495543.1:p.Val582=
ENST00000233146.6:c.1746_1748delinsCAA	ENSP00000233146.2:p.Val582=
ENST00000406134.5:c.1746_1748delinsCAA	ENSP00000384199.1:p.Val582=
ENST00000543555.5:c.1548_1550delinsCAA	ENSP00000442697.1:p.Val516=
ENST00000610696.4:c.*142_*144delinsCAA	ENSP00000483159.1:n.*142_*144delinsCAA
ENST00000613514.4:c.*286_*288delinsCAA	ENSP00000484137.1:n.*286_*288delinsCAA
ENST00000617333.3:c.*512_*514delinsCAA	ENSP00000482468.1:n.*512_*514delinsCAA
ENST00000617938.4:c.*718_*720delinsCAA	ENSP00000481158.1:n.*718_*720delinsCAA
ENST00000621359.2:c.1746_1748delinsCAA	ENSP00000481416.1:p.Val582=
NM_000251.2:c.1746_1748delinsCAA , LRG_218t1:c.1746_1748delinsCAA	NP_000242.1:p.Val582=
NM_001258281.1:c.1548_1550delinsCAA	NP_001245210.1:p.Val516=
XM_005264332.2:c.1746_1748delinsCAA	XP_005264389.2:p.Val582=
XM_011532867.1:c.1746_1748delinsCAA	XP_011531169.1:p.Val582=
XR_939685.1:n.1818_1820delinsCAA
XM_005264332.4:c.1746_1748delinsCAA	XP_005264389.2:p.Val582=
XM_011532867.2:c.1746_1748delinsCAA	XP_011531169.1:p.Val582=
XR_001738747.2:n.1808_1810delinsCAA
XR_939685.2:n.1808_1810delinsCAA
NM_000251.3:c.1746_1748delinsCAA MANE Select	NP_000242.1:p.Val582=