Canonical Allele Identifier: CA915943823

Gene: MSH2

Linked Data

• ClinVar Variation Id: 656413
• ClinVar RCV Id: RCV000812822 ; RCV000986679
• dbSNP Id: rs1573566488

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475066_47475070del , CM000664.2:g.47475066_47475070del	GRCh38
NC_000002.11:g.47702205_47702209del , CM000664.1:g.47702205_47702209del	GRCh37
NC_000002.10:g.47555709_47555713del	NCBI36
NG_007110.2:g.76943_76947del , LRG_218:g.76943_76947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1801_1805del	ENSP00000495641.2:p.Gln601ArgfsTer?
ENST00000233146.7:c.1801_1805del MANE Select	ENSP00000233146.2:p.Gln601ArgfsTer?
ENST00000543555.6:c.1603_1607del	ENSP00000442697.1:p.Gln535ArgfsTer?
ENST00000644092.1:c.*101_*105del	ENSP00000496351.1:n.*101_*105del
ENST00000645339.1:c.1801_1805del	ENSP00000496441.1:p.Gln601ArgfsTer?
ENST00000645506.1:c.1801_1805del	ENSP00000495455.1:p.Gln601ArgfsTer?
ENST00000646415.1:c.1801_1805del	ENSP00000495543.1:p.Gln601ArgfsTer?
ENST00000233146.6:c.1801_1805del	ENSP00000233146.2:p.Gln601ArgfsTer?
ENST00000406134.5:c.1801_1805del	ENSP00000384199.1:p.Gln601ArgfsTer?
ENST00000543555.5:c.1603_1607del	ENSP00000442697.1:p.Gln535ArgfsTer?
ENST00000610696.4:c.*197_*201del	ENSP00000483159.1:n.*197_*201del
ENST00000613514.4:c.*341_*345del	ENSP00000484137.1:n.*341_*345del
ENST00000617333.3:c.*567_*571del	ENSP00000482468.1:n.*567_*571del
ENST00000617938.4:c.*773_*777del	ENSP00000481158.1:n.*773_*777del
ENST00000621359.2:c.1801_1805del	ENSP00000481416.1:p.Gln601ArgfsTer?
NM_000251.2:c.1801_1805del , LRG_218t1:c.1801_1805del	NP_000242.1:p.Gln601ArgfsTer?
NM_001258281.1:c.1603_1607del	NP_001245210.1:p.Gln535ArgfsTer?
XM_005264332.2:c.1801_1805del	XP_005264389.2:p.Gln601ArgfsTer?
XM_011532867.1:c.1801_1805del	XP_011531169.1:p.Gln601ArgfsTer?
XR_939685.1:n.1873_1877del
XM_005264332.4:c.1801_1805del	XP_005264389.2:p.Gln601ArgfsTer?
XM_011532867.2:c.1801_1805del	XP_011531169.1:p.Gln601ArgfsTer?
XR_001738747.2:n.1863_1867del
XR_939685.2:n.1863_1867del
NM_000251.3:c.1801_1805del MANE Select	NP_000242.1:p.Gln601ArgfsTer?