Canonical Allele Identifier: CA2740130149

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429897_47429898del , CM000664.2:g.47429897_47429898del	GRCh38
NC_000002.11:g.47657036_47657037del , CM000664.1:g.47657036_47657037del	GRCh37
NC_000002.10:g.47510540_47510541del	NCBI36
NG_007110.2:g.31774_31775del , LRG_218:g.31774_31775del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1232_1233del	ENSP00000495641.2:p.Ile411LysfsTer5
ENST00000233146.7:c.1232_1233del MANE Select	ENSP00000233146.2:p.Ile411LysfsTer5
ENST00000543555.6:c.1034_1035del	ENSP00000442697.1:p.Ile345LysfsTer5
ENST00000644092.1:c.1232_1233del	ENSP00000496351.1:p.Ile411LysfsTer5
ENST00000645339.1:c.1232_1233del	ENSP00000496441.1:p.Ile411LysfsTer5
ENST00000645506.1:c.1232_1233del	ENSP00000495455.1:p.Ile411LysfsTer5
ENST00000646415.1:c.1232_1233del	ENSP00000495543.1:p.Ile411LysfsTer5
ENST00000233146.6:c.1232_1233del	ENSP00000233146.2:p.Ile411LysfsTer5
ENST00000406134.5:c.1232_1233del	ENSP00000384199.1:p.Ile411LysfsTer5
ENST00000543555.5:c.1034_1035del	ENSP00000442697.1:p.Ile345LysfsTer5
ENST00000610696.4:c.1232_1233del	ENSP00000483159.1:p.Ile411LysfsTer5
ENST00000613514.4:c.1232_1233del	ENSP00000484137.1:p.Ile411LysfsTer5
ENST00000617333.3:c.1231_1232del	ENSP00000482468.1:p.Ter411AsnextTer?
ENST00000617938.4:c.*204_*205del	ENSP00000481158.1:n.*204_*205del
ENST00000621359.2:c.1232_1233del	ENSP00000481416.1:p.Ile411LysfsTer5
NM_000251.2:c.1232_1233del , LRG_218t1:c.1232_1233del	NP_000242.1:p.Ile411LysfsTer5
NM_001258281.1:c.1034_1035del	NP_001245210.1:p.Ile345LysfsTer5
XM_005264332.2:c.1232_1233del	XP_005264389.2:p.Ile411LysfsTer5
XM_011532867.1:c.1232_1233del	XP_011531169.1:p.Ile411LysfsTer5
XR_939685.1:n.1304_1305del
XM_005264332.4:c.1232_1233del	XP_005264389.2:p.Ile411LysfsTer5
XM_011532867.2:c.1232_1233del	XP_011531169.1:p.Ile411LysfsTer5
XR_001738747.2:n.1294_1295del
XR_939685.2:n.1294_1295del
NM_000251.3:c.1232_1233del MANE Select	NP_000242.1:p.Ile411LysfsTer5