Canonical Allele Identifier: CA2586964904

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478371del , CM000664.2:g.47478371del	GRCh38
NC_000002.11:g.47705510del , CM000664.1:g.47705510del	GRCh37
NC_000002.10:g.47559014del	NCBI36
NG_007110.2:g.80248del , LRG_218:g.80248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2310del	ENSP00000495641.2:p.Ile770MetfsTer?
ENST00000233146.7:c.2310del MANE Select	ENSP00000233146.2:p.Ile770MetfsTer?
ENST00000543555.6:c.2112del	ENSP00000442697.1:p.Ile704MetfsTer?
ENST00000644092.1:c.*610del	ENSP00000496351.1:n.*610del
ENST00000644900.1:c.163del
ENST00000645339.1:c.2310del	ENSP00000496441.1:p.Ile770MetfsTer?
ENST00000645506.1:c.2310del	ENSP00000495455.1:p.Ile770MetfsTer?
ENST00000646415.1:c.2310del	ENSP00000495543.1:p.Ile770MetfsTer?
ENST00000233146.6:c.2310del	ENSP00000233146.2:p.Ile770MetfsTer?
ENST00000406134.5:c.2310del	ENSP00000384199.1:p.Ile770MetfsTer?
ENST00000543555.5:c.2112del	ENSP00000442697.1:p.Ile704MetfsTer?
ENST00000610696.4:c.*706del	ENSP00000483159.1:n.*706del
ENST00000613514.4:c.*850del	ENSP00000484137.1:n.*850del
ENST00000617333.3:c.*1076del	ENSP00000482468.1:n.*1076del
ENST00000617938.4:c.*1282del	ENSP00000481158.1:n.*1282del
ENST00000621359.2:c.2310del	ENSP00000481416.1:p.Ile770MetfsTer16
NM_000251.2:c.2310del , LRG_218t1:c.2310del	NP_000242.1:p.Ile770MetfsTer?
NM_001258281.1:c.2112del	NP_001245210.1:p.Ile704MetfsTer?
XM_005264332.2:c.2310del	XP_005264389.2:p.Ile770MetfsTer?
XM_011532867.1:c.2310del	XP_011531169.1:p.Ile770MetfsTer?
XR_939685.1:n.2382del
XM_005264332.4:c.2310del	XP_005264389.2:p.Ile770MetfsTer?
XM_011532867.2:c.2310del	XP_011531169.1:p.Ile770MetfsTer?
XR_001738747.2:n.2372del
XR_939685.2:n.2372del
NM_000251.3:c.2310del MANE Select	NP_000242.1:p.Ile770MetfsTer?