Canonical Allele Identifier: CA2580066814

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1788675
• ClinVar RCV Id: RCV002443784

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478325_47478326del , CM000664.2:g.47478325_47478326del	GRCh38
NC_000002.11:g.47705464_47705465del , CM000664.1:g.47705464_47705465del	GRCh37
NC_000002.10:g.47558968_47558969del	NCBI36
NG_007110.2:g.80202_80203del , LRG_218:g.80202_80203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2264_2265del	ENSP00000495641.2:p.Ser755TyrfsTer?
ENST00000233146.7:c.2264_2265del MANE Select	ENSP00000233146.2:p.Ser755TyrfsTer?
ENST00000543555.6:c.2066_2067del	ENSP00000442697.1:p.Ser689TyrfsTer?
ENST00000644092.1:c.*564_*565del	ENSP00000496351.1:n.*564_*565del
ENST00000644900.1:c.117_118del
ENST00000645339.1:c.2264_2265del	ENSP00000496441.1:p.Ser755TyrfsTer?
ENST00000645506.1:c.2264_2265del	ENSP00000495455.1:p.Ser755TyrfsTer?
ENST00000646415.1:c.2264_2265del	ENSP00000495543.1:p.Ser755TyrfsTer?
ENST00000233146.6:c.2264_2265del	ENSP00000233146.2:p.Ser755TyrfsTer?
ENST00000406134.5:c.2264_2265del	ENSP00000384199.1:p.Ser755TyrfsTer?
ENST00000543555.5:c.2066_2067del	ENSP00000442697.1:p.Ser689TyrfsTer?
ENST00000610696.4:c.*660_*661del	ENSP00000483159.1:n.*660_*661del
ENST00000613514.4:c.*804_*805del	ENSP00000484137.1:n.*804_*805del
ENST00000617333.3:c.*1030_*1031del	ENSP00000482468.1:n.*1030_*1031del
ENST00000617938.4:c.*1236_*1237del	ENSP00000481158.1:n.*1236_*1237del
ENST00000621359.2:c.2264_2265del	ENSP00000481416.1:p.Ser755TyrfsTer?
NM_000251.2:c.2264_2265del , LRG_218t1:c.2264_2265del	NP_000242.1:p.Ser755TyrfsTer?
NM_001258281.1:c.2066_2067del	NP_001245210.1:p.Ser689TyrfsTer?
XM_005264332.2:c.2264_2265del	XP_005264389.2:p.Ser755TyrfsTer?
XM_011532867.1:c.2264_2265del	XP_011531169.1:p.Ser755TyrfsTer?
XR_939685.1:n.2336_2337del
XM_005264332.4:c.2264_2265del	XP_005264389.2:p.Ser755TyrfsTer?
XM_011532867.2:c.2264_2265del	XP_011531169.1:p.Ser755TyrfsTer?
XR_001738747.2:n.2326_2327del
XR_939685.2:n.2326_2327del
NM_000251.3:c.2264_2265del MANE Select	NP_000242.1:p.Ser755TyrfsTer?