Canonical Allele Identifier: CA2580067282

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1792859
• ClinVar RCV Id: RCV002433246

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480781_47480788del , CM000664.2:g.47480781_47480788del	GRCh38
NC_000002.11:g.47707920_47707927del , CM000664.1:g.47707920_47707927del	GRCh37
NC_000002.10:g.47561424_47561431del	NCBI36
NG_007110.2:g.82658_82665del , LRG_218:g.82658_82665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2544_2551del	ENSP00000495641.2:p.Leu849Ter
ENST00000233146.7:c.2544_2551del MANE Select	ENSP00000233146.2:p.Leu849Ter
ENST00000543555.6:c.2346_2353del	ENSP00000442697.1:p.Leu783Ter
ENST00000644092.1:c.*844_*851del	ENSP00000496351.1:n.*844_*851del
ENST00000644900.1:c.397_404del
ENST00000645339.1:c.2544_2551del	ENSP00000496441.1:p.Leu849Ter
ENST00000645506.1:c.2544_2551del	ENSP00000495455.1:p.Leu849Ter
ENST00000646415.1:c.2544_2551del	ENSP00000495543.1:p.Leu849Ter
ENST00000233146.6:c.2544_2551del	ENSP00000233146.2:p.Leu849Ter
ENST00000406134.5:c.2544_2551del	ENSP00000384199.1:p.Leu849Ter
ENST00000543555.5:c.2346_2353del	ENSP00000442697.1:p.Leu783Ter
ENST00000610696.4:c.*940_*947del	ENSP00000483159.1:n.*940_*947del
ENST00000613514.4:c.*1084_*1091del	ENSP00000484137.1:n.*1084_*1091del
ENST00000617333.3:c.*1310_*1317del	ENSP00000482468.1:n.*1310_*1317del
ENST00000617938.4:c.*1516_*1523del	ENSP00000481158.1:n.*1516_*1523del
ENST00000621359.2:c.*110_*117del	ENSP00000481416.1:n.*110_*117del
NM_000251.2:c.2544_2551del , LRG_218t1:c.2544_2551del	NP_000242.1:p.Leu849Ter
NM_001258281.1:c.2346_2353del	NP_001245210.1:p.Leu783Ter
XM_005264332.2:c.2544_2551del	XP_005264389.2:p.Leu849Ter
XM_011532867.1:c.2544_2551del	XP_011531169.1:p.Leu849Ter
XR_939685.1:n.2616_2623del
XM_005264332.4:c.2544_2551del	XP_005264389.2:p.Leu849Ter
XM_011532867.2:c.2544_2551del	XP_011531169.1:p.Leu849Ter
XR_001738747.2:n.2606_2613del
XR_939685.2:n.2606_2613del
NM_000251.3:c.2544_2551del MANE Select	NP_000242.1:p.Leu849Ter