Canonical Allele Identifier: CA645369206

Gene: MSH2

Linked Data

• ClinVar Variation Id: 428527
• ClinVar RCV Id: RCV000491604
• dbSNP Id: rs1114167861
• MyVariant Identifiers: chr2:g.47705500_47705505del (hg19) ; chr2:g.47478361_47478366del (hg38)
• PubMed: PMID:17101317 ; PMID:17531815 ; PMID:22102614 ; PMID:22179786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478361_47478366del , CM000664.2:g.47478361_47478366del	GRCh38
NC_000002.11:g.47705500_47705505del , CM000664.1:g.47705500_47705505del	GRCh37
NC_000002.10:g.47559004_47559009del	NCBI36
NG_007110.2:g.80238_80243del , LRG_218:g.80238_80243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2300_2305del	ENSP00000495641.2:p.Ser767_Glu768del
ENST00000233146.7:c.2300_2305del MANE Select	ENSP00000233146.2:p.Ser767_Glu768del
ENST00000543555.6:c.2102_2107del	ENSP00000442697.1:p.Ser701_Glu702del
ENST00000644092.1:c.*600_*605del	ENSP00000496351.1:n.*600_*605del
ENST00000644900.1:c.153_158del
ENST00000645339.1:c.2300_2305del	ENSP00000496441.1:p.Ser767_Glu768del
ENST00000645506.1:c.2300_2305del	ENSP00000495455.1:p.Ser767_Glu768del
ENST00000646415.1:c.2300_2305del	ENSP00000495543.1:p.Ser767_Glu768del
ENST00000233146.6:c.2300_2305del	ENSP00000233146.2:p.Ser767_Glu768del
ENST00000406134.5:c.2300_2305del	ENSP00000384199.1:p.Ser767_Glu768del
ENST00000543555.5:c.2102_2107del	ENSP00000442697.1:p.Ser701_Glu702del
ENST00000610696.4:c.*696_*701del	ENSP00000483159.1:n.*696_*701del
ENST00000613514.4:c.*840_*845del	ENSP00000484137.1:n.*840_*845del
ENST00000617333.3:c.*1066_*1071del	ENSP00000482468.1:n.*1066_*1071del
ENST00000617938.4:c.*1272_*1277del	ENSP00000481158.1:n.*1272_*1277del
ENST00000621359.2:c.2300_2305del	ENSP00000481416.1:p.Ser767_Glu768del
NM_000251.2:c.2300_2305del , LRG_218t1:c.2300_2305del	NP_000242.1:p.Ser767_Glu768del
NM_001258281.1:c.2102_2107del	NP_001245210.1:p.Ser701_Glu702del
XM_005264332.2:c.2300_2305del	XP_005264389.2:p.Ser767_Glu768del
XM_011532867.1:c.2300_2305del	XP_011531169.1:p.Ser767_Glu768del
XR_939685.1:n.2372_2377del
XM_005264332.4:c.2300_2305del	XP_005264389.2:p.Ser767_Glu768del
XM_011532867.2:c.2300_2305del	XP_011531169.1:p.Ser767_Glu768del
XR_001738747.2:n.2362_2367del
XR_939685.2:n.2362_2367del
NM_000251.3:c.2300_2305del MANE Select	NP_000242.1:p.Ser767_Glu768del