Canonical Allele Identifier: CA769456578

Gene: MSH2

Linked Data

• dbSNP Id: rs1448317398
• gnomAD v4: 2-47445560-AATT-A
• MyVariant Identifiers: chr2:g.47672700_47672702del (hg19) ; chr2:g.47445561_47445563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47445564_47445566del , CM000664.2:g.47445564_47445566del	GRCh38
NC_000002.11:g.47672703_47672705del , CM000664.1:g.47672703_47672705del	GRCh37
NC_000002.10:g.47526207_47526209del	NCBI36
NG_007110.2:g.47441_47443del , LRG_218:g.47441_47443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1293_1295del	ENSP00000495641.2:p.Leu432del
ENST00000233146.7:c.1293_1295del MANE Select	ENSP00000233146.2:p.Leu432del
ENST00000543555.6:c.1095_1097del	ENSP00000442697.1:p.Leu366del
ENST00000644092.1:c.1293_1295del	ENSP00000496351.1:p.Leu432del
ENST00000645339.1:c.1293_1295del	ENSP00000496441.1:p.Leu432del
ENST00000645506.1:c.1293_1295del	ENSP00000495455.1:p.Leu432del
ENST00000646415.1:c.1293_1295del	ENSP00000495543.1:p.Leu432del
ENST00000233146.6:c.1293_1295del	ENSP00000233146.2:p.Leu432del
ENST00000406134.5:c.1293_1295del	ENSP00000384199.1:p.Leu432del
ENST00000543555.5:c.1095_1097del	ENSP00000442697.1:p.Leu366del
ENST00000610696.4:c.1293_1295del	ENSP00000483159.1:p.Leu432del
ENST00000613514.4:c.1293_1295del	ENSP00000484137.1:p.Leu432del
ENST00000617333.3:c.*59_*61del	ENSP00000482468.1:n.*59_*61del
ENST00000617938.4:c.*265_*267del	ENSP00000481158.1:n.*265_*267del
ENST00000621359.2:c.1293_1295del	ENSP00000481416.1:p.Leu432del
NM_000251.2:c.1293_1295del , LRG_218t1:c.1293_1295del	NP_000242.1:p.Leu432del
NM_001258281.1:c.1095_1097del	NP_001245210.1:p.Leu366del
XM_005264332.2:c.1293_1295del	XP_005264389.2:p.Leu432del
XM_011532867.1:c.1293_1295del	XP_011531169.1:p.Leu432del
XR_939685.1:n.1365_1367del
XM_005264332.4:c.1293_1295del	XP_005264389.2:p.Leu432del
XM_011532867.2:c.1293_1295del	XP_011531169.1:p.Leu432del
XR_001738747.2:n.1355_1357del
XR_939685.2:n.1355_1357del
NM_000251.3:c.1293_1295del MANE Select	NP_000242.1:p.Leu432del