Canonical Allele Identifier: CA2580066972

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1780569
• ClinVar RCV Id: RCV002410162

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475075_47475076delinsACTGTTGTCAGCT , CM000664.2:g.47475075_47475076delinsACTGTTGTCAGCT	GRCh38
NC_000002.11:g.47702214_47702215delinsACTGTTGTCAGCT , CM000664.1:g.47702214_47702215delinsACTGTTGTCAGCT	GRCh37
NC_000002.10:g.47555718_47555719delinsACTGTTGTCAGCT	NCBI36
NG_007110.2:g.76952_76953delinsACTGTTGTCAGCT , LRG_218:g.76952_76953delinsACTGTTGTCAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1810_1811delinsACTGTTGTCAGCT	ENSP00000495641.2:p.Ala604ThrfsTer?
ENST00000233146.7:c.1810_1811delinsACTGTTGTCAGCT MANE Select	ENSP00000233146.2:p.Ala604ThrfsTer?
ENST00000543555.6:c.1612_1613delinsACTGTTGTCAGCT	ENSP00000442697.1:p.Ala538ThrfsTer?
ENST00000644092.1:c.*110_*111delinsACTGTTGTCAGCT	ENSP00000496351.1:n.*110_*111delinsACTGTTGTCAGCT
ENST00000645339.1:c.1810_1811delinsACTGTTGTCAGCT	ENSP00000496441.1:p.Ala604ThrfsTer?
ENST00000645506.1:c.1810_1811delinsACTGTTGTCAGCT	ENSP00000495455.1:p.Ala604ThrfsTer?
ENST00000646415.1:c.1810_1811delinsACTGTTGTCAGCT	ENSP00000495543.1:p.Ala604ThrfsTer?
ENST00000233146.6:c.1810_1811delinsACTGTTGTCAGCT	ENSP00000233146.2:p.Ala604ThrfsTer?
ENST00000406134.5:c.1810_1811delinsACTGTTGTCAGCT	ENSP00000384199.1:p.Ala604ThrfsTer?
ENST00000543555.5:c.1612_1613delinsACTGTTGTCAGCT	ENSP00000442697.1:p.Ala538ThrfsTer?
ENST00000610696.4:c.*206_*207delinsACTGTTGTCAGCT	ENSP00000483159.1:n.*206_*207delinsACTGTTGTCAGCT
ENST00000613514.4:c.*350_*351delinsACTGTTGTCAGCT	ENSP00000484137.1:n.*350_*351delinsACTGTTGTCAGCT
ENST00000617333.3:c.*576_*577delinsACTGTTGTCAGCT	ENSP00000482468.1:n.*576_*577delinsACTGTTGTCAGCT
ENST00000617938.4:c.*782_*783delinsACTGTTGTCAGCT	ENSP00000481158.1:n.*782_*783delinsACTGTTGTCAGCT
ENST00000621359.2:c.1810_1811delinsACTGTTGTCAGCT	ENSP00000481416.1:p.Ala604ThrfsTer?
NM_000251.2:c.1810_1811delinsACTGTTGTCAGCT , LRG_218t1:c.1810_1811delinsACTGTTGTCAGCT	NP_000242.1:p.Ala604ThrfsTer?
NM_001258281.1:c.1612_1613delinsACTGTTGTCAGCT	NP_001245210.1:p.Ala538ThrfsTer?
XM_005264332.2:c.1810_1811delinsACTGTTGTCAGCT	XP_005264389.2:p.Ala604ThrfsTer?
XM_011532867.1:c.1810_1811delinsACTGTTGTCAGCT	XP_011531169.1:p.Ala604ThrfsTer?
XR_939685.1:n.1882_1883delinsACTGTTGTCAGCT
XM_005264332.4:c.1810_1811delinsACTGTTGTCAGCT	XP_005264389.2:p.Ala604ThrfsTer?
XM_011532867.2:c.1810_1811delinsACTGTTGTCAGCT	XP_011531169.1:p.Ala604ThrfsTer?
XR_001738747.2:n.1872_1873delinsACTGTTGTCAGCT
XR_939685.2:n.1872_1873delinsACTGTTGTCAGCT
NM_000251.3:c.1810_1811delinsACTGTTGTCAGCT MANE Select	NP_000242.1:p.Ala604ThrfsTer?