Canonical Allele Identifier: CA2495876061

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480756_47480758delinsTAA , CM000664.2:g.47480756_47480758delinsTAA	GRCh38
NC_000002.11:g.47707895_47707897delinsTAA , CM000664.1:g.47707895_47707897delinsTAA	GRCh37
NC_000002.10:g.47561399_47561401delinsTAA	NCBI36
NG_007110.2:g.82633_82635delinsTAA , LRG_218:g.82633_82635delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2519_2521delinsTAA	ENSP00000495641.2:p.Val840=
ENST00000233146.7:c.2519_2521delinsTAA MANE Select	ENSP00000233146.2:p.Val840=
ENST00000543555.6:c.2321_2323delinsTAA	ENSP00000442697.1:p.Val774=
ENST00000644092.1:c.*819_*821delinsTAA	ENSP00000496351.1:n.*819_*821delinsTAA
ENST00000644900.1:c.372_374delinsTAA
ENST00000645339.1:c.2519_2521delinsTAA	ENSP00000496441.1:p.Val840=
ENST00000645506.1:c.2519_2521delinsTAA	ENSP00000495455.1:p.Val840=
ENST00000646415.1:c.2519_2521delinsTAA	ENSP00000495543.1:p.Val840=
ENST00000233146.6:c.2519_2521delinsTAA	ENSP00000233146.2:p.Val840=
ENST00000406134.5:c.2519_2521delinsTAA	ENSP00000384199.1:p.Val840=
ENST00000543555.5:c.2321_2323delinsTAA	ENSP00000442697.1:p.Val774=
ENST00000610696.4:c.*915_*917delinsTAA	ENSP00000483159.1:n.*915_*917delinsTAA
ENST00000613514.4:c.*1059_*1061delinsTAA	ENSP00000484137.1:n.*1059_*1061delinsTAA
ENST00000617333.3:c.*1285_*1287delinsTAA	ENSP00000482468.1:n.*1285_*1287delinsTAA
ENST00000617938.4:c.*1491_*1493delinsTAA	ENSP00000481158.1:n.*1491_*1493delinsTAA
ENST00000621359.2:c.*85_*87delinsTAA	ENSP00000481416.1:n.*85_*87delinsTAA
NM_000251.2:c.2519_2521delinsTAA , LRG_218t1:c.2519_2521delinsTAA	NP_000242.1:p.Val840=
NM_001258281.1:c.2321_2323delinsTAA	NP_001245210.1:p.Val774=
XM_005264332.2:c.2519_2521delinsTAA	XP_005264389.2:p.Val840=
XM_011532867.1:c.2519_2521delinsTAA	XP_011531169.1:p.Val840=
XR_939685.1:n.2591_2593delinsTAA
XM_005264332.4:c.2519_2521delinsTAA	XP_005264389.2:p.Val840=
XM_011532867.2:c.2519_2521delinsTAA	XP_011531169.1:p.Val840=
XR_001738747.2:n.2581_2583delinsTAA
XR_939685.2:n.2581_2583delinsTAA
NM_000251.3:c.2519_2521delinsTAA MANE Select	NP_000242.1:p.Val840=