Canonical Allele Identifier: CA019558

Gene: MSH2

Linked Data

• ClinVar Variation Id: 182593
• ClinVar RCV Id: RCV000160631
• dbSNP Id: rs730881776
• MyVariant Identifiers: chr2:g.47702320_47702323del (hg19) ; chr2:g.47475181_47475184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475181_47475184del , CM000664.2:g.47475181_47475184del	GRCh38
NC_000002.11:g.47702320_47702323del , CM000664.1:g.47702320_47702323del	GRCh37
NC_000002.10:g.47555824_47555827del	NCBI36
NG_007110.2:g.77058_77061del , LRG_218:g.77058_77061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1916_1919del	ENSP00000495641.2:p.His639LeufsTer?
ENST00000233146.7:c.1916_1919del MANE Select	ENSP00000233146.2:p.His639LeufsTer?
ENST00000543555.6:c.1718_1721del	ENSP00000442697.1:p.His573LeufsTer?
ENST00000644092.1:c.*216_*219del	ENSP00000496351.1:n.*216_*219del
ENST00000645339.1:c.1916_1919del	ENSP00000496441.1:p.His639LeufsTer?
ENST00000645506.1:c.1916_1919del	ENSP00000495455.1:p.His639LeufsTer?
ENST00000646415.1:c.1916_1919del	ENSP00000495543.1:p.His639LeufsTer?
ENST00000233146.6:c.1916_1919del	ENSP00000233146.2:p.His639LeufsTer?
ENST00000406134.5:c.1916_1919del	ENSP00000384199.1:p.His639LeufsTer?
ENST00000543555.5:c.1718_1721del	ENSP00000442697.1:p.His573LeufsTer?
ENST00000610696.4:c.*312_*315del	ENSP00000483159.1:n.*312_*315del
ENST00000613514.4:c.*456_*459del	ENSP00000484137.1:n.*456_*459del
ENST00000617333.3:c.*682_*685del	ENSP00000482468.1:n.*682_*685del
ENST00000617938.4:c.*888_*891del	ENSP00000481158.1:n.*888_*891del
ENST00000621359.2:c.1916_1919del	ENSP00000481416.1:p.His639LeufsTer?
NM_000251.2:c.1916_1919del , LRG_218t1:c.1916_1919del	NP_000242.1:p.His639LeufsTer?
NM_001258281.1:c.1718_1721del	NP_001245210.1:p.His573LeufsTer?
XM_005264332.2:c.1916_1919del	XP_005264389.2:p.His639LeufsTer?
XM_011532867.1:c.1916_1919del	XP_011531169.1:p.His639LeufsTer?
XR_939685.1:n.1988_1991del
XM_005264332.4:c.1916_1919del	XP_005264389.2:p.His639LeufsTer?
XM_011532867.2:c.1916_1919del	XP_011531169.1:p.His639LeufsTer?
XR_001738747.2:n.1978_1981del
XR_939685.2:n.1978_1981del
NM_000251.3:c.1916_1919del MANE Select	NP_000242.1:p.His639LeufsTer?