Canonical Allele Identifier: CA2580066735

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1748269
• ClinVar RCV Id: RCV002351959

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429869_47429896del , CM000664.2:g.47429869_47429896del	GRCh38
NC_000002.11:g.47657008_47657035del , CM000664.1:g.47657008_47657035del	GRCh37
NC_000002.10:g.47510512_47510539del	NCBI36
NG_007110.2:g.31746_31773del , LRG_218:g.31746_31773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1204_1231del	ENSP00000495641.2:p.Gln402Ter
ENST00000233146.7:c.1204_1231del MANE Select	ENSP00000233146.2:p.Gln402Ter
ENST00000543555.6:c.1006_1033del	ENSP00000442697.1:p.Gln336Ter
ENST00000644092.1:c.1204_1231del	ENSP00000496351.1:p.Gln402Ter
ENST00000645339.1:c.1204_1231del	ENSP00000496441.1:p.Gln402Ter
ENST00000645506.1:c.1204_1231del	ENSP00000495455.1:p.Gln402Ter
ENST00000646415.1:c.1204_1231del	ENSP00000495543.1:p.Gln402Ter
ENST00000233146.6:c.1204_1231del	ENSP00000233146.2:p.Gln402Ter
ENST00000406134.5:c.1204_1231del	ENSP00000384199.1:p.Gln402Ter
ENST00000543555.5:c.1006_1033del	ENSP00000442697.1:p.Gln336Ter
ENST00000610696.4:c.1204_1231del	ENSP00000483159.1:p.Gln402Ter
ENST00000613514.4:c.1204_1231del	ENSP00000484137.1:p.Gln402Ter
ENST00000617333.3:c.1203_1230del	ENSP00000482468.1:p.Ile403SerfsTer4
ENST00000617938.4:c.*176_*203del	ENSP00000481158.1:n.*176_*203del
ENST00000621359.2:c.1204_1231del	ENSP00000481416.1:p.Gln402Ter
NM_000251.2:c.1204_1231del , LRG_218t1:c.1204_1231del	NP_000242.1:p.Gln402Ter
NM_001258281.1:c.1006_1033del	NP_001245210.1:p.Gln336Ter
XM_005264332.2:c.1204_1231del	XP_005264389.2:p.Gln402Ter
XM_011532867.1:c.1204_1231del	XP_011531169.1:p.Gln402Ter
XR_939685.1:n.1276_1303del
XM_005264332.4:c.1204_1231del	XP_005264389.2:p.Gln402Ter
XM_011532867.2:c.1204_1231del	XP_011531169.1:p.Gln402Ter
XR_001738747.2:n.1266_1293del
XR_939685.2:n.1266_1293del
NM_000251.3:c.1204_1231del MANE Select	NP_000242.1:p.Gln402Ter