Canonical Allele Identifier: CA645509102

Gene: MSH2

Linked Data

• ClinVar Variation Id: 439187
• ClinVar RCV Id: RCV000506328 ; RCV003449447
• dbSNP Id: rs1553367687
• MyVariant Identifiers: chr2:g.47698189_47698190del (hg19) ; chr2:g.47471050_47471051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47471050_47471051del , CM000664.2:g.47471050_47471051del	GRCh38
NC_000002.11:g.47698189_47698190del , CM000664.1:g.47698189_47698190del	GRCh37
NC_000002.10:g.47551693_47551694del	NCBI36
NG_007110.2:g.72927_72928del , LRG_218:g.72927_72928del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1747_1748del	ENSP00000495641.2:p.Asn583TyrfsTer14
ENST00000233146.7:c.1747_1748del MANE Select	ENSP00000233146.2:p.Asn583TyrfsTer14
ENST00000543555.6:c.1549_1550del	ENSP00000442697.1:p.Asn517TyrfsTer14
ENST00000644092.1:c.*47_*48del	ENSP00000496351.1:n.*47_*48del
ENST00000645339.1:c.1747_1748del	ENSP00000496441.1:p.Asn583TyrfsTer14
ENST00000645506.1:c.1747_1748del	ENSP00000495455.1:p.Asn583TyrfsTer14
ENST00000646415.1:c.1747_1748del	ENSP00000495543.1:p.Asn583TyrfsTer14
ENST00000233146.6:c.1747_1748del	ENSP00000233146.2:p.Asn583TyrfsTer14
ENST00000406134.5:c.1747_1748del	ENSP00000384199.1:p.Asn583TyrfsTer14
ENST00000543555.5:c.1549_1550del	ENSP00000442697.1:p.Asn517TyrfsTer14
ENST00000610696.4:c.*143_*144del	ENSP00000483159.1:n.*143_*144del
ENST00000613514.4:c.*287_*288del	ENSP00000484137.1:n.*287_*288del
ENST00000617333.3:c.*513_*514del	ENSP00000482468.1:n.*513_*514del
ENST00000617938.4:c.*719_*720del	ENSP00000481158.1:n.*719_*720del
ENST00000621359.2:c.1747_1748del	ENSP00000481416.1:p.Asn583TyrfsTer14
NM_000251.2:c.1747_1748del , LRG_218t1:c.1747_1748del	NP_000242.1:p.Asn583TyrfsTer14
NM_001258281.1:c.1549_1550del	NP_001245210.1:p.Asn517TyrfsTer14
XM_005264332.2:c.1747_1748del	XP_005264389.2:p.Asn583TyrfsTer14
XM_011532867.1:c.1747_1748del	XP_011531169.1:p.Asn583TyrfsTer14
XR_939685.1:n.1819_1820del
XM_005264332.4:c.1747_1748del	XP_005264389.2:p.Asn583TyrfsTer14
XM_011532867.2:c.1747_1748del	XP_011531169.1:p.Asn583TyrfsTer14
XR_001738747.2:n.1809_1810del
XR_939685.2:n.1809_1810del
NM_000251.3:c.1747_1748del MANE Select	NP_000242.1:p.Asn583TyrfsTer14