Canonical Allele Identifier: CA018338

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90670
• ClinVar RCV Id: RCV000001842 ; RCV000076166 ; RCV000166117 ; RCV000236889 ; RCV000677888 ; RCV000677889 ; RCV001201896
• dbSNP Id: rs1114167806
• MyVariant Identifiers: chr2:g.47690240_47690243del (hg19) ; chr2:g.47690235_47690238del (hg19) ; chr2:g.47463101_47463104del (hg38) ; chr2:g.47463096_47463099del (hg38)
• PubMed: PMID:10413423 ; PMID:12386821 ; PMID:15042510 ; PMID:15516845 ; PMID:28874130

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463101_47463104del , CM000664.2:g.47463101_47463104del	GRCh38
NC_000002.11:g.47690240_47690243del , CM000664.1:g.47690240_47690243del	GRCh37
NC_000002.10:g.47543744_47543747del	NCBI36
NG_007110.2:g.64978_64981del , LRG_218:g.64978_64981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1457_1460del	ENSP00000495641.2:p.Asn486ThrfsTer10
ENST00000233146.7:c.1457_1460del MANE Select	ENSP00000233146.2:p.Asn486ThrfsTer10
ENST00000543555.6:c.1259_1262del	ENSP00000442697.1:p.Asn420ThrfsTer10
ENST00000644092.1:c.1457_1460del	ENSP00000496351.1:p.Asn486ThrfsTer10
ENST00000645339.1:c.1457_1460del	ENSP00000496441.1:p.Asn486ThrfsTer10
ENST00000645506.1:c.1457_1460del	ENSP00000495455.1:p.Asn486ThrfsTer10
ENST00000646415.1:c.1457_1460del	ENSP00000495543.1:p.Asn486ThrfsTer10
ENST00000233146.6:c.1457_1460del	ENSP00000233146.2:p.Asn486ThrfsTer10
ENST00000406134.5:c.1457_1460del	ENSP00000384199.1:p.Asn486ThrfsTer10
ENST00000543555.5:c.1259_1262del	ENSP00000442697.1:p.Asn420ThrfsTer10
ENST00000610696.4:c.1457_1460del	ENSP00000483159.1:p.Asn486ThrfsTer10
ENST00000613514.4:c.1455_1458del	ENSP00000484137.1:p.Glu485AspfsTer?
ENST00000617333.3:c.*223_*226del	ENSP00000482468.1:n.*223_*226del
ENST00000617938.4:c.*429_*432del	ENSP00000481158.1:n.*429_*432del
ENST00000621359.2:c.1457_1460del	ENSP00000481416.1:p.Asn486ThrfsTer10
NM_000251.2:c.1457_1460del , LRG_218t1:c.1457_1460del	NP_000242.1:p.Asn486ThrfsTer10
NM_001258281.1:c.1259_1262del	NP_001245210.1:p.Asn420ThrfsTer10
XM_005264332.2:c.1457_1460del	XP_005264389.2:p.Asn486ThrfsTer10
XM_011532867.1:c.1457_1460del	XP_011531169.1:p.Asn486ThrfsTer10
XR_939685.1:n.1529_1532del
XM_005264332.4:c.1457_1460del	XP_005264389.2:p.Asn486ThrfsTer10
XM_011532867.2:c.1457_1460del	XP_011531169.1:p.Asn486ThrfsTer10
XR_001738747.2:n.1519_1522del
XR_939685.2:n.1519_1522del
NM_000251.3:c.1457_1460del MANE Select	NP_000242.1:p.Asn486ThrfsTer10