Canonical Allele Identifier: CA2499216067

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1298804
• ClinVar RCV Id: RCV001727134
• dbSNP Id: rs1558521605

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478328_47478329insAGAA , CM000664.2:g.47478328_47478329insAGAA	GRCh38
NC_000002.11:g.47705467_47705468insAGAA , CM000664.1:g.47705467_47705468insAGAA	GRCh37
NC_000002.10:g.47558971_47558972insAGAA	NCBI36
NG_007110.2:g.80205_80206insAGAA , LRG_218:g.80205_80206insAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2267_2268insAGAA	ENSP00000495641.2:p.Tyr757GlufsTer31
ENST00000233146.7:c.2267_2268insAGAA MANE Select	ENSP00000233146.2:p.Tyr757GlufsTer31
ENST00000543555.6:c.2069_2070insAGAA	ENSP00000442697.1:p.Tyr691GlufsTer31
ENST00000644092.1:c.*567_*568insAGAA	ENSP00000496351.1:n.*567_*568insAGAA
ENST00000644900.1:c.120_121insAGAA
ENST00000645339.1:c.2267_2268insAGAA	ENSP00000496441.1:p.Tyr757GlufsTer31
ENST00000645506.1:c.2267_2268insAGAA	ENSP00000495455.1:p.Tyr757GlufsTer31
ENST00000646415.1:c.2267_2268insAGAA	ENSP00000495543.1:p.Tyr757GlufsTer31
ENST00000233146.6:c.2267_2268insAGAA	ENSP00000233146.2:p.Tyr757GlufsTer31
ENST00000406134.5:c.2267_2268insAGAA	ENSP00000384199.1:p.Tyr757GlufsTer31
ENST00000543555.5:c.2069_2070insAGAA	ENSP00000442697.1:p.Tyr691GlufsTer31
ENST00000610696.4:c.*663_*664insAGAA	ENSP00000483159.1:n.*663_*664insAGAA
ENST00000613514.4:c.*807_*808insAGAA	ENSP00000484137.1:n.*807_*808insAGAA
ENST00000617333.3:c.*1033_*1034insAGAA	ENSP00000482468.1:n.*1033_*1034insAGAA
ENST00000617938.4:c.*1239_*1240insAGAA	ENSP00000481158.1:n.*1239_*1240insAGAA
ENST00000621359.2:c.2267_2268insAGAA	ENSP00000481416.1:p.Tyr757GlufsTer?
NM_000251.2:c.2267_2268insAGAA , LRG_218t1:c.2267_2268insAGAA	NP_000242.1:p.Tyr757GlufsTer31
NM_001258281.1:c.2069_2070insAGAA	NP_001245210.1:p.Tyr691GlufsTer31
XM_005264332.2:c.2267_2268insAGAA	XP_005264389.2:p.Tyr757GlufsTer31
XM_011532867.1:c.2267_2268insAGAA	XP_011531169.1:p.Tyr757GlufsTer31
XR_939685.1:n.2339_2340insAGAA
XM_005264332.4:c.2267_2268insAGAA	XP_005264389.2:p.Tyr757GlufsTer31
XM_011532867.2:c.2267_2268insAGAA	XP_011531169.1:p.Tyr757GlufsTer31
XR_001738747.2:n.2329_2330insAGAA
XR_939685.2:n.2329_2330insAGAA
NM_000251.3:c.2267_2268insAGAA MANE Select	NP_000242.1:p.Tyr757GlufsTer31