Canonical Allele Identifier: CA2580067361

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1780384
• ClinVar RCV Id: RCV002407899

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403371_47403380delinsACCCCC , CM000664.2:g.47403371_47403380delinsACCCCC	GRCh38
NC_000002.11:g.47630510_47630519delinsACCCCC , CM000664.1:g.47630510_47630519delinsACCCCC	GRCh37
NC_000002.10:g.47484014_47484023delinsACCCCC	NCBI36
NG_007110.2:g.5248_5257delinsACCCCC , LRG_218:g.5248_5257delinsACCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.180_189delinsACCCCC	ENSP00000495641.2:p.Gln61ProfsTer22
ENST00000233146.7:c.180_189delinsACCCCC MANE Select	ENSP00000233146.2:p.Gln61ProfsTer22
ENST00000543555.6:c.-19_-10delinsACCCCC	ENSP00000442697.1:n.-19_-10delinsACCCCC
ENST00000644092.1:c.180_189delinsACCCCC	ENSP00000496351.1:p.Gln61ProfsTer22
ENST00000645339.1:c.180_189delinsACCCCC	ENSP00000496441.1:p.Gln61ProfsTer22
ENST00000645506.1:c.180_189delinsACCCCC	ENSP00000495455.1:p.Gln61ProfsTer22
ENST00000646415.1:c.180_189delinsACCCCC	ENSP00000495543.1:p.Gln61ProfsTer22
ENST00000233146.6:c.180_189delinsACCCCC	ENSP00000233146.2:p.Gln61ProfsTer22
ENST00000406134.5:c.180_189delinsACCCCC	ENSP00000384199.1:p.Gln61ProfsTer22
ENST00000454849.5:c.-19_-10delinsACCCCC	ENSP00000411482.1:n.-19_-10delinsACCCCC
ENST00000543555.5:c.-19_-10delinsACCCCC	ENSP00000442697.1:n.-19_-10delinsACCCCC
ENST00000610696.4:c.180_189delinsACCCCC	ENSP00000483159.1:p.Gln61ProfsTer22
ENST00000613514.4:c.180_189delinsACCCCC	ENSP00000484137.1:p.Gln61ProfsTer22
ENST00000617333.3:c.180_189delinsACCCCC	ENSP00000482468.1:p.Gln61ProfsTer22
ENST00000617938.4:c.180_189delinsACCCCC	ENSP00000481158.1:p.Gln61ProfsTer22
ENST00000621359.2:c.180_189delinsACCCCC	ENSP00000481416.1:p.Gln61ProfsTer22
NM_000251.2:c.180_189delinsACCCCC , LRG_218t1:c.180_189delinsACCCCC	NP_000242.1:p.Gln61ProfsTer22
NM_001258281.1:c.-19_-10delinsACCCCC	NP_001245210.1:n.-19_-10delinsACCCCC
XM_005264332.2:c.180_189delinsACCCCC	XP_005264389.2:p.Gln61ProfsTer22
XM_011532867.1:c.180_189delinsACCCCC	XP_011531169.1:p.Gln61ProfsTer22
XR_939685.1:n.252_261delinsACCCCC
XM_005264332.4:c.180_189delinsACCCCC	XP_005264389.2:p.Gln61ProfsTer22
XM_011532867.2:c.180_189delinsACCCCC	XP_011531169.1:p.Gln61ProfsTer22
XR_001738747.2:n.242_251delinsACCCCC
XR_939685.2:n.242_251delinsACCCCC
NM_000251.3:c.180_189delinsACCCCC MANE Select	NP_000242.1:p.Gln61ProfsTer22