Canonical Allele Identifier: CA1030269743

Gene: MSH2

Linked Data

• dbSNP Id: rs1667226144
• gnomAD v3: 2-47474972-CTG-C
• gnomAD v4: 2-47474972-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47474974_47474975del , CM000664.2:g.47474974_47474975del	GRCh38
NC_000002.11:g.47702113_47702114del , CM000664.1:g.47702113_47702114del	GRCh37
NC_000002.10:g.47555617_47555618del	NCBI36
NG_007110.2:g.76851_76852del , LRG_218:g.76851_76852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1760-51_1760-50del	ENSP00000495641.2:n.1760-51_1760-50del
ENST00000233146.7:c.1760-51_1760-50del MANE Select	ENSP00000233146.2:n.1760-51_1760-50del
ENST00000543555.6:c.1562-51_1562-50del	ENSP00000442697.1:n.1562-51_1562-50del
ENST00000644092.1:c.*60-51_*60-50del	ENSP00000496351.1:n.*60-51_*60-50del
ENST00000645339.1:c.1760-51_1760-50del	ENSP00000496441.1:n.1760-51_1760-50del
ENST00000645506.1:c.1760-51_1760-50del	ENSP00000495455.1:n.1760-51_1760-50del
ENST00000646415.1:c.1760-51_1760-50del	ENSP00000495543.1:n.1760-51_1760-50del
ENST00000233146.6:c.1760-51_1760-50del	ENSP00000233146.2:n.1760-51_1760-50del
ENST00000406134.5:c.1760-51_1760-50del	ENSP00000384199.1:n.1760-51_1760-50del
ENST00000543555.5:c.1562-51_1562-50del	ENSP00000442697.1:n.1562-51_1562-50del
ENST00000610696.4:c.*156-51_*156-50del	ENSP00000483159.1:n.*156-51_*156-50del
ENST00000613514.4:c.*300-51_*300-50del	ENSP00000484137.1:n.*300-51_*300-50del
ENST00000617333.3:c.*526-51_*526-50del	ENSP00000482468.1:n.*526-51_*526-50del
ENST00000617938.4:c.*732-51_*732-50del	ENSP00000481158.1:n.*732-51_*732-50del
ENST00000621359.2:c.1760-51_1760-50del	ENSP00000481416.1:n.1760-51_1760-50del
NM_000251.2:c.1760-51_1760-50del , LRG_218t1:c.1760-51_1760-50del	NP_000242.1:n.1760-51_1760-50del
NM_001258281.1:c.1562-51_1562-50del	NP_001245210.1:n.1562-51_1562-50del
XM_005264332.2:c.1760-51_1760-50del	XP_005264389.2:n.1760-51_1760-50del
XM_011532867.1:c.1760-51_1760-50del	XP_011531169.1:n.1760-51_1760-50del
XR_939685.1:n.1832-51_1832-50del
XM_005264332.4:c.1760-51_1760-50del	XP_005264389.2:n.1760-51_1760-50del
XM_011532867.2:c.1760-51_1760-50del	XP_011531169.1:n.1760-51_1760-50del
XR_001738747.2:n.1822-51_1822-50del
XR_939685.2:n.1822-51_1822-50del
NM_000251.3:c.1760-51_1760-50del MANE Select	NP_000242.1:n.1760-51_1760-50del