Canonical Allele Identifier: CA020317

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90939
• ClinVar RCV Id: RCV000076441 ; RCV002426635
• dbSNP Id: rs63750712
• MyVariant Identifiers: chr2:g.47635551_47635552del (hg19) ; chr2:g.47408412_47408413del (hg38)
• PubMed: PMID:10777691

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47408412_47408413del , CM000664.2:g.47408412_47408413del	GRCh38
NC_000002.11:g.47635551_47635552del , CM000664.1:g.47635551_47635552del	GRCh37
NC_000002.10:g.47489055_47489056del	NCBI36
NG_007110.2:g.10289_10290del , LRG_218:g.10289_10290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.223_224del	ENSP00000495641.2:p.Leu75AlafsTer6
ENST00000233146.7:c.223_224del MANE Select	ENSP00000233146.2:p.Leu75AlafsTer6
ENST00000543555.6:c.25_26del	ENSP00000442697.1:p.Leu9AlafsTer6
ENST00000644092.1:c.223_224del	ENSP00000496351.1:p.Leu75AlafsTer6
ENST00000645339.1:c.223_224del	ENSP00000496441.1:p.Leu75AlafsTer6
ENST00000645506.1:c.223_224del	ENSP00000495455.1:p.Leu75AlafsTer6
ENST00000646415.1:c.223_224del	ENSP00000495543.1:p.Leu75AlafsTer6
ENST00000233146.6:c.223_224del	ENSP00000233146.2:p.Leu75AlafsTer6
ENST00000406134.5:c.223_224del	ENSP00000384199.1:p.Leu75AlafsTer6
ENST00000454849.5:c.25_26del	ENSP00000411482.1:p.Leu9AlafsTer6
ENST00000543555.5:c.25_26del	ENSP00000442697.1:p.Leu9AlafsTer6
ENST00000610696.4:c.223_224del	ENSP00000483159.1:p.Leu75AlafsTer6
ENST00000613514.4:c.223_224del	ENSP00000484137.1:p.Leu75AlafsTer6
ENST00000617333.3:c.223_224del	ENSP00000482468.1:p.Leu75AlafsTer6
ENST00000617938.4:c.223_224del	ENSP00000481158.1:p.Leu75AlafsTer6
ENST00000621359.2:c.223_224del	ENSP00000481416.1:p.Leu75AlafsTer6
NM_000251.2:c.223_224del , LRG_218t1:c.223_224del	NP_000242.1:p.Leu75AlafsTer6
NM_001258281.1:c.25_26del	NP_001245210.1:p.Leu9AlafsTer6
XM_005264332.2:c.223_224del	XP_005264389.2:p.Leu75AlafsTer6
XM_011532867.1:c.223_224del	XP_011531169.1:p.Leu75AlafsTer6
XR_939685.1:n.295_296del
XM_005264332.4:c.223_224del	XP_005264389.2:p.Leu75AlafsTer6
XM_011532867.2:c.223_224del	XP_011531169.1:p.Leu75AlafsTer6
XR_001738747.2:n.285_286del
XR_939685.2:n.285_286del
NM_000251.3:c.223_224del MANE Select	NP_000242.1:p.Leu75AlafsTer6