Canonical Allele Identifier: CA915943824

Gene: MSH2

Linked Data

• ClinVar Variation Id: 820181
• ClinVar RCV Id: RCV001013386 ; RCV003461332
• dbSNP Id: rs1573566787

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475115_47475116dup , CM000664.2:g.47475115_47475116dup	GRCh38
NC_000002.11:g.47702254_47702255dup , CM000664.1:g.47702254_47702255dup	GRCh37
NC_000002.10:g.47555758_47555759dup	NCBI36
NG_007110.2:g.76992_76993dup , LRG_218:g.76992_76993dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1850_1851dup	ENSP00000495641.2:p.Pro618PhefsTer18
ENST00000233146.7:c.1850_1851dup MANE Select	ENSP00000233146.2:p.Pro618PhefsTer18
ENST00000543555.6:c.1652_1653dup	ENSP00000442697.1:p.Pro552PhefsTer18
ENST00000644092.1:c.*150_*151dup	ENSP00000496351.1:n.*150_*151dup
ENST00000645339.1:c.1850_1851dup	ENSP00000496441.1:p.Pro618PhefsTer18
ENST00000645506.1:c.1850_1851dup	ENSP00000495455.1:p.Pro618PhefsTer18
ENST00000646415.1:c.1850_1851dup	ENSP00000495543.1:p.Pro618PhefsTer18
ENST00000233146.6:c.1850_1851dup	ENSP00000233146.2:p.Pro618PhefsTer18
ENST00000406134.5:c.1850_1851dup	ENSP00000384199.1:p.Pro618PhefsTer18
ENST00000543555.5:c.1652_1653dup	ENSP00000442697.1:p.Pro552PhefsTer18
ENST00000610696.4:c.*246_*247dup	ENSP00000483159.1:n.*246_*247dup
ENST00000613514.4:c.*390_*391dup	ENSP00000484137.1:n.*390_*391dup
ENST00000617333.3:c.*616_*617dup	ENSP00000482468.1:n.*616_*617dup
ENST00000617938.4:c.*822_*823dup	ENSP00000481158.1:n.*822_*823dup
ENST00000621359.2:c.1850_1851dup	ENSP00000481416.1:p.Pro618PhefsTer18
NM_000251.2:c.1850_1851dup , LRG_218t1:c.1850_1851dup	NP_000242.1:p.Pro618PhefsTer18
NM_001258281.1:c.1652_1653dup	NP_001245210.1:p.Pro552PhefsTer18
XM_005264332.2:c.1850_1851dup	XP_005264389.2:p.Pro618PhefsTer18
XM_011532867.1:c.1850_1851dup	XP_011531169.1:p.Pro618PhefsTer18
XR_939685.1:n.1922_1923dup
XM_005264332.4:c.1850_1851dup	XP_005264389.2:p.Pro618PhefsTer18
XM_011532867.2:c.1850_1851dup	XP_011531169.1:p.Pro618PhefsTer18
XR_001738747.2:n.1912_1913dup
XR_939685.2:n.1912_1913dup
NM_000251.3:c.1850_1851dup MANE Select	NP_000242.1:p.Pro618PhefsTer18