Canonical Allele Identifier: CA2580066803

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1747310
• ClinVar RCV Id: RCV002347270

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403245_47403246insG , CM000664.2:g.47403245_47403246insG	GRCh38
NC_000002.11:g.47630384_47630385insG , CM000664.1:g.47630384_47630385insG	GRCh37
NC_000002.10:g.47483888_47483889insG	NCBI36
NG_007110.2:g.5122_5123insG , LRG_218:g.5122_5123insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.54_55insG	ENSP00000495641.2:p.Phe19ValfsTer?
ENST00000233146.7:c.54_55insG MANE Select	ENSP00000233146.2:p.Phe19ValfsTer?
ENST00000543555.6:c.-31+70_-31+71insG	ENSP00000442697.1:n.-31+70_-31+71insG
ENST00000644092.1:c.54_55insG	ENSP00000496351.1:p.Phe19ValfsTer?
ENST00000645339.1:c.54_55insG	ENSP00000496441.1:p.Phe19ValfsTer?
ENST00000645506.1:c.54_55insG	ENSP00000495455.1:p.Phe19ValfsTer?
ENST00000646415.1:c.54_55insG	ENSP00000495543.1:p.Phe19ValfsTer?
ENST00000233146.6:c.54_55insG	ENSP00000233146.2:p.Phe19ValfsTer?
ENST00000406134.5:c.54_55insG	ENSP00000384199.1:p.Phe19ValfsTer?
ENST00000454849.5:c.-31+70_-31+71insG	ENSP00000411482.1:n.-31+70_-31+71insG
ENST00000543555.5:c.-31+70_-31+71insG	ENSP00000442697.1:n.-31+70_-31+71insG
ENST00000610696.4:c.54_55insG	ENSP00000483159.1:p.Phe19ValfsTer?
ENST00000613514.4:c.54_55insG	ENSP00000484137.1:p.Phe19ValfsTer?
ENST00000617333.3:c.54_55insG	ENSP00000482468.1:p.Phe19ValfsTer?
ENST00000617938.4:c.54_55insG	ENSP00000481158.1:p.Phe19ValfsTer?
ENST00000621359.2:c.54_55insG	ENSP00000481416.1:p.Phe19ValfsTer?
NM_000251.2:c.54_55insG , LRG_218t1:c.54_55insG	NP_000242.1:p.Phe19ValfsTer?
NM_001258281.1:c.-31+70_-31+71insG	NP_001245210.1:n.-31+70_-31+71insG
XM_005264332.2:c.54_55insG	XP_005264389.2:p.Phe19ValfsTer?
XM_011532867.1:c.54_55insG	XP_011531169.1:p.Phe19ValfsTer?
XR_939685.1:n.126_127insG
XM_005264332.4:c.54_55insG	XP_005264389.2:p.Phe19ValfsTer?
XM_011532867.2:c.54_55insG	XP_011531169.1:p.Phe19ValfsTer?
XR_001738747.2:n.116_117insG
XR_939685.2:n.116_117insG
NM_000251.3:c.54_55insG MANE Select	NP_000242.1:p.Phe19ValfsTer?