Canonical Allele Identifier: CA1139655611

Gene: MSH2

Linked Data

• ClinVar Variation Id: 988518
• ClinVar RCV Id: RCV001269924
• dbSNP Id: rs1667578908

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482824_47482825dup , CM000664.2:g.47482824_47482825dup	GRCh38
NC_000002.11:g.47709963_47709964dup , CM000664.1:g.47709963_47709964dup	GRCh37
NC_000002.10:g.47563467_47563468dup	NCBI36
NG_007110.2:g.84701_84702dup , LRG_218:g.84701_84702dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+1953_2634+1954dup	ENSP00000495641.2:n.2634+1953_2634+1954dup
ENST00000233146.7:c.2680_2681dup MANE Select	ENSP00000233146.2:p.Met894IlefsTer14
ENST00000543555.6:c.2482_2483dup	ENSP00000442697.1:p.Met828IlefsTer14
ENST00000644092.1:c.*934+1953_*934+1954dup	ENSP00000496351.1:n.*934+1953_*934+1954dup
ENST00000644900.1:c.487+1953_487+1954dup
ENST00000645339.1:c.2634+1953_2634+1954dup	ENSP00000496441.1:n.2634+1953_2634+1954dup
ENST00000645506.1:c.2634+1953_2634+1954dup	ENSP00000495455.1:n.2634+1953_2634+1954dup
ENST00000646415.1:c.2634+1953_2634+1954dup	ENSP00000495543.1:n.2634+1953_2634+1954dup
ENST00000233146.6:c.2680_2681dup	ENSP00000233146.2:p.Met894IlefsTer14
ENST00000406134.5:c.2634+1953_2634+1954dup	ENSP00000384199.1:n.2634+1953_2634+1954dup
ENST00000461394.5:n.75+1953_75+1954dup
ENST00000543555.5:c.2482_2483dup	ENSP00000442697.1:p.Met828IlefsTer14
ENST00000610696.4:c.*1076_*1077dup	ENSP00000483159.1:n.*1076_*1077dup
ENST00000613514.4:c.*1220_*1221dup	ENSP00000484137.1:n.*1220_*1221dup
ENST00000617333.3:c.*1446_*1447dup	ENSP00000482468.1:n.*1446_*1447dup
ENST00000617938.4:c.*1652_*1653dup	ENSP00000481158.1:n.*1652_*1653dup
ENST00000621359.2:c.*246_*247dup	ENSP00000481416.1:n.*246_*247dup
NM_000251.2:c.2680_2681dup , LRG_218t1:c.2680_2681dup	NP_000242.1:p.Met894IlefsTer14
NM_001258281.1:c.2482_2483dup	NP_001245210.1:p.Met828IlefsTer14
XM_005264332.2:c.2634+1953_2634+1954dup	XP_005264389.2:n.2634+1953_2634+1954dup
XM_011532867.1:c.2634+1953_2634+1954dup	XP_011531169.1:n.2634+1953_2634+1954dup
XR_939685.1:n.2706+1953_2706+1954dup
XM_005264332.4:c.2634+1953_2634+1954dup	XP_005264389.2:n.2634+1953_2634+1954dup
XM_011532867.2:c.2634+1953_2634+1954dup	XP_011531169.1:n.2634+1953_2634+1954dup
XR_001738747.2:n.2696+1953_2696+1954dup
XR_939685.2:n.2696+1953_2696+1954dup
NM_000251.3:c.2680_2681dup MANE Select	NP_000242.1:p.Met894IlefsTer14