Canonical Allele Identifier: CA2495872441

Gene: MSH2

Linked Data

• ClinVar Variation Id: 996774
• ClinVar RCV Id: RCV001291556
• dbSNP Id: rs1667236103

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475096_47475111del , CM000664.2:g.47475096_47475111del	GRCh38
NC_000002.11:g.47702235_47702250del , CM000664.1:g.47702235_47702250del	GRCh37
NC_000002.10:g.47555739_47555754del	NCBI36
NG_007110.2:g.76973_76988del , LRG_218:g.76973_76988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1831_1846del	ENSP00000495641.2:p.Val611LeufsTer19
ENST00000233146.7:c.1831_1846del MANE Select	ENSP00000233146.2:p.Val611LeufsTer19
ENST00000543555.6:c.1633_1648del	ENSP00000442697.1:p.Val545LeufsTer19
ENST00000644092.1:c.*131_*146del	ENSP00000496351.1:n.*131_*146del
ENST00000645339.1:c.1831_1846del	ENSP00000496441.1:p.Val611LeufsTer19
ENST00000645506.1:c.1831_1846del	ENSP00000495455.1:p.Val611LeufsTer19
ENST00000646415.1:c.1831_1846del	ENSP00000495543.1:p.Val611LeufsTer19
ENST00000233146.6:c.1831_1846del	ENSP00000233146.2:p.Val611LeufsTer19
ENST00000406134.5:c.1831_1846del	ENSP00000384199.1:p.Val611LeufsTer19
ENST00000543555.5:c.1633_1648del	ENSP00000442697.1:p.Val545LeufsTer19
ENST00000610696.4:c.*227_*242del	ENSP00000483159.1:n.*227_*242del
ENST00000613514.4:c.*371_*386del	ENSP00000484137.1:n.*371_*386del
ENST00000617333.3:c.*597_*612del	ENSP00000482468.1:n.*597_*612del
ENST00000617938.4:c.*803_*818del	ENSP00000481158.1:n.*803_*818del
ENST00000621359.2:c.1831_1846del	ENSP00000481416.1:p.Val611LeufsTer19
NM_000251.2:c.1831_1846del , LRG_218t1:c.1831_1846del	NP_000242.1:p.Val611LeufsTer19
NM_001258281.1:c.1633_1648del	NP_001245210.1:p.Val545LeufsTer19
XM_005264332.2:c.1831_1846del	XP_005264389.2:p.Val611LeufsTer19
XM_011532867.1:c.1831_1846del	XP_011531169.1:p.Val611LeufsTer19
XR_939685.1:n.1903_1918del
XM_005264332.4:c.1831_1846del	XP_005264389.2:p.Val611LeufsTer19
XM_011532867.2:c.1831_1846del	XP_011531169.1:p.Val611LeufsTer19
XR_001738747.2:n.1893_1908del
XR_939685.2:n.1893_1908del
NM_000251.3:c.1831_1846del MANE Select	NP_000242.1:p.Val611LeufsTer19