Canonical Allele Identifier: CA020463

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90954
• ClinVar RCV Id: RCV000076456
• dbSNP Id: rs63750896
• MyVariant Identifiers: chr2:g.47705505del (hg19) ; chr2:g.47478366del (hg38)
• PubMed: PMID:16451135

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478366del , CM000664.2:g.47478366del	GRCh38
NC_000002.11:g.47705505del , CM000664.1:g.47705505del	GRCh37
NC_000002.10:g.47559009del	NCBI36
NG_007110.2:g.80243del , LRG_218:g.80243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2305del	ENSP00000495641.2:p.Tyr769ThrfsTer?
ENST00000233146.7:c.2305del MANE Select	ENSP00000233146.2:p.Tyr769ThrfsTer?
ENST00000543555.6:c.2107del	ENSP00000442697.1:p.Tyr703ThrfsTer?
ENST00000644092.1:c.*605del	ENSP00000496351.1:n.*605del
ENST00000644900.1:c.158del
ENST00000645339.1:c.2305del	ENSP00000496441.1:p.Tyr769ThrfsTer?
ENST00000645506.1:c.2305del	ENSP00000495455.1:p.Tyr769ThrfsTer?
ENST00000646415.1:c.2305del	ENSP00000495543.1:p.Tyr769ThrfsTer?
ENST00000233146.6:c.2305del	ENSP00000233146.2:p.Tyr769ThrfsTer?
ENST00000406134.5:c.2305del	ENSP00000384199.1:p.Tyr769ThrfsTer?
ENST00000543555.5:c.2107del	ENSP00000442697.1:p.Tyr703ThrfsTer?
ENST00000610696.4:c.*701del	ENSP00000483159.1:n.*701del
ENST00000613514.4:c.*845del	ENSP00000484137.1:n.*845del
ENST00000617333.3:c.*1071del	ENSP00000482468.1:n.*1071del
ENST00000617938.4:c.*1277del	ENSP00000481158.1:n.*1277del
ENST00000621359.2:c.2305del	ENSP00000481416.1:p.Tyr769ThrfsTer17
NM_000251.2:c.2305del , LRG_218t1:c.2305del	NP_000242.1:p.Tyr769ThrfsTer?
NM_001258281.1:c.2107del	NP_001245210.1:p.Tyr703ThrfsTer?
XM_005264332.2:c.2305del	XP_005264389.2:p.Tyr769ThrfsTer?
XM_011532867.1:c.2305del	XP_011531169.1:p.Tyr769ThrfsTer?
XR_939685.1:n.2377del
XM_005264332.4:c.2305del	XP_005264389.2:p.Tyr769ThrfsTer?
XM_011532867.2:c.2305del	XP_011531169.1:p.Tyr769ThrfsTer?
XR_001738747.2:n.2367del
XR_939685.2:n.2367del
NM_000251.3:c.2305del MANE Select	NP_000242.1:p.Tyr769ThrfsTer?