Canonical Allele Identifier: CA2495865228

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463053_47463054delinsTA , CM000664.2:g.47463053_47463054delinsTA	GRCh38
NC_000002.11:g.47690192_47690193delinsTA , CM000664.1:g.47690192_47690193delinsTA	GRCh37
NC_000002.10:g.47543696_47543697delinsTA	NCBI36
NG_007110.2:g.64930_64931delinsTA , LRG_218:g.64930_64931delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1409_1410delinsTA	ENSP00000495641.2:p.Val470=
ENST00000233146.7:c.1409_1410delinsTA MANE Select	ENSP00000233146.2:p.Val470=
ENST00000543555.6:c.1211_1212delinsTA	ENSP00000442697.1:p.Val404=
ENST00000644092.1:c.1409_1410delinsTA	ENSP00000496351.1:p.Val470=
ENST00000645339.1:c.1409_1410delinsTA	ENSP00000496441.1:p.Val470=
ENST00000645506.1:c.1409_1410delinsTA	ENSP00000495455.1:p.Val470=
ENST00000646415.1:c.1409_1410delinsTA	ENSP00000495543.1:p.Val470=
ENST00000233146.6:c.1409_1410delinsTA	ENSP00000233146.2:p.Val470=
ENST00000406134.5:c.1409_1410delinsTA	ENSP00000384199.1:p.Val470=
ENST00000543555.5:c.1211_1212delinsTA	ENSP00000442697.1:p.Val404=
ENST00000610696.4:c.1409_1410delinsTA	ENSP00000483159.1:p.Val470=
ENST00000613514.4:c.1409_1410delinsTA	ENSP00000484137.1:p.Val470=
ENST00000617333.3:c.*175_*176delinsTA	ENSP00000482468.1:n.*175_*176delinsTA
ENST00000617938.4:c.*381_*382delinsTA	ENSP00000481158.1:n.*381_*382delinsTA
ENST00000621359.2:c.1409_1410delinsTA	ENSP00000481416.1:p.Val470=
NM_000251.2:c.1409_1410delinsTA , LRG_218t1:c.1409_1410delinsTA	NP_000242.1:p.Val470=
NM_001258281.1:c.1211_1212delinsTA	NP_001245210.1:p.Val404=
XM_005264332.2:c.1409_1410delinsTA	XP_005264389.2:p.Val470=
XM_011532867.1:c.1409_1410delinsTA	XP_011531169.1:p.Val470=
XR_939685.1:n.1481_1482delinsTA
XM_005264332.4:c.1409_1410delinsTA	XP_005264389.2:p.Val470=
XM_011532867.2:c.1409_1410delinsTA	XP_011531169.1:p.Val470=
XR_001738747.2:n.1471_1472delinsTA
XR_939685.2:n.1471_1472delinsTA
NM_000251.3:c.1409_1410delinsTA MANE Select	NP_000242.1:p.Val470=