Canonical Allele Identifier: CA913187980

Gene: MSH2

Linked Data

• ClinVar Variation Id: 921179
• ClinVar RCV Id: RCV001180441 ; RCV003449590 ; RCV004017792
• dbSNP Id: rs1573574188
• gnomAD v4: 2-47478388-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478393del , CM000664.2:g.47478393del	GRCh38
NC_000002.11:g.47705532del , CM000664.1:g.47705532del	GRCh37
NC_000002.10:g.47559036del	NCBI36
NG_007110.2:g.80270del , LRG_218:g.80270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2332del	ENSP00000495641.2:p.Cys778AlafsTer?
ENST00000233146.7:c.2332del MANE Select	ENSP00000233146.2:p.Cys778AlafsTer?
ENST00000543555.6:c.2134del	ENSP00000442697.1:p.Cys712AlafsTer?
ENST00000644092.1:c.*632del	ENSP00000496351.1:n.*632del
ENST00000644900.1:c.185del
ENST00000645339.1:c.2332del	ENSP00000496441.1:p.Cys778AlafsTer?
ENST00000645506.1:c.2332del	ENSP00000495455.1:p.Cys778AlafsTer?
ENST00000646415.1:c.2332del	ENSP00000495543.1:p.Cys778AlafsTer?
ENST00000233146.6:c.2332del	ENSP00000233146.2:p.Cys778AlafsTer?
ENST00000406134.5:c.2332del	ENSP00000384199.1:p.Cys778AlafsTer?
ENST00000543555.5:c.2134del	ENSP00000442697.1:p.Cys712AlafsTer?
ENST00000610696.4:c.*728del	ENSP00000483159.1:n.*728del
ENST00000613514.4:c.*872del	ENSP00000484137.1:n.*872del
ENST00000617333.3:c.*1098del	ENSP00000482468.1:n.*1098del
ENST00000617938.4:c.*1304del	ENSP00000481158.1:n.*1304del
ENST00000621359.2:c.2332del	ENSP00000481416.1:p.Cys778AlafsTer8
NM_000251.2:c.2332del , LRG_218t1:c.2332del	NP_000242.1:p.Cys778AlafsTer?
NM_001258281.1:c.2134del	NP_001245210.1:p.Cys712AlafsTer?
XM_005264332.2:c.2332del	XP_005264389.2:p.Cys778AlafsTer?
XM_011532867.1:c.2332del	XP_011531169.1:p.Cys778AlafsTer?
XR_939685.1:n.2404del
XM_005264332.4:c.2332del	XP_005264389.2:p.Cys778AlafsTer?
XM_011532867.2:c.2332del	XP_011531169.1:p.Cys778AlafsTer?
XR_001738747.2:n.2394del
XR_939685.2:n.2394del
NM_000251.3:c.2332del MANE Select	NP_000242.1:p.Cys778AlafsTer?