Canonical Allele Identifier: CA2580066917

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1789920
• ClinVar RCV Id: RCV002448327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478407_47478414del , CM000664.2:g.47478407_47478414del	GRCh38
NC_000002.11:g.47705546_47705553del , CM000664.1:g.47705546_47705553del	GRCh37
NC_000002.10:g.47559050_47559057del	NCBI36
NG_007110.2:g.80284_80291del , LRG_218:g.80284_80291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2346_2353del	ENSP00000495641.2:p.His783Ter
ENST00000233146.7:c.2346_2353del MANE Select	ENSP00000233146.2:p.His783Ter
ENST00000543555.6:c.2148_2155del	ENSP00000442697.1:p.His717Ter
ENST00000644092.1:c.*646_*653del	ENSP00000496351.1:n.*646_*653del
ENST00000644900.1:c.199_206del
ENST00000645339.1:c.2346_2353del	ENSP00000496441.1:p.His783Ter
ENST00000645506.1:c.2346_2353del	ENSP00000495455.1:p.His783Ter
ENST00000646415.1:c.2346_2353del	ENSP00000495543.1:p.His783Ter
ENST00000233146.6:c.2346_2353del	ENSP00000233146.2:p.His783Ter
ENST00000406134.5:c.2346_2353del	ENSP00000384199.1:p.His783Ter
ENST00000543555.5:c.2148_2155del	ENSP00000442697.1:p.His717Ter
ENST00000610696.4:c.*742_*749del	ENSP00000483159.1:n.*742_*749del
ENST00000613514.4:c.*886_*893del	ENSP00000484137.1:n.*886_*893del
ENST00000617333.3:c.*1112_*1119del	ENSP00000482468.1:n.*1112_*1119del
ENST00000617938.4:c.*1318_*1325del	ENSP00000481158.1:n.*1318_*1325del
ENST00000621359.2:c.2346_2352del
NM_000251.2:c.2346_2353del , LRG_218t1:c.2346_2353del	NP_000242.1:p.His783Ter
NM_001258281.1:c.2148_2155del	NP_001245210.1:p.His717Ter
XM_005264332.2:c.2346_2353del	XP_005264389.2:p.His783Ter
XM_011532867.1:c.2346_2353del	XP_011531169.1:p.His783Ter
XR_939685.1:n.2418_2425del
XM_005264332.4:c.2346_2353del	XP_005264389.2:p.His783Ter
XM_011532867.2:c.2346_2353del	XP_011531169.1:p.His783Ter
XR_001738747.2:n.2408_2415del
XR_939685.2:n.2408_2415del
NM_000251.3:c.2346_2353del MANE Select	NP_000242.1:p.His783Ter