Canonical Allele Identifier: CA346730082

Gene: MSH2

Linked Data

• ClinVar Variation Id: 455560
• ClinVar RCV Id: RCV000553342 ; RCV000679305 ; RCV002456044 ; RCV004003745
• dbSNP Id: rs1281667531
• gnomAD v2: 2-47705576-T-A
• gnomAD v3: 2-47478437-T-A
• gnomAD v4: 2-47478437-T-A
• MyVariant Identifiers: chr2:g.47705576T>A (hg19) ; chr2:g.47478437T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478437T>A , CM000664.2:g.47478437T>A	GRCh38
NC_000002.11:g.47705576T>A , CM000664.1:g.47705576T>A	GRCh37
NC_000002.10:g.47559080T>A	NCBI36
NG_007110.2:g.80314T>A , LRG_218:g.80314T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2376T>A	ENSP00000495641.2:p.Asn792Lys
ENST00000233146.7:c.2376T>A MANE Select	ENSP00000233146.2:p.Asn792Lys
ENST00000543555.6:c.2178T>A	ENSP00000442697.1:p.Asn726Lys
ENST00000644092.1:c.*676T>A	ENSP00000496351.1:n.*676T>A
ENST00000644900.1:c.229T>A
ENST00000645339.1:c.2376T>A	ENSP00000496441.1:p.Asn792Lys
ENST00000645506.1:c.2376T>A	ENSP00000495455.1:p.Asn792Lys
ENST00000646415.1:c.2376T>A	ENSP00000495543.1:p.Asn792Lys
ENST00000233146.6:c.2376T>A	ENSP00000233146.2:p.Asn792Lys
ENST00000406134.5:c.2376T>A	ENSP00000384199.1:p.Asn792Lys
ENST00000543555.5:c.2178T>A	ENSP00000442697.1:p.Asn726Lys
ENST00000610696.4:c.*772T>A	ENSP00000483159.1:n.*772T>A
ENST00000613514.4:c.*916T>A	ENSP00000484137.1:n.*916T>A
ENST00000617333.3:c.*1142T>A	ENSP00000482468.1:n.*1142T>A
ENST00000617938.4:c.*1348T>A	ENSP00000481158.1:n.*1348T>A
ENST00000621359.2:c.2375T>A	ENSP00000481416.1:p.Ile792Asn
NM_000251.2:c.2376T>A , LRG_218t1:c.2376T>A	NP_000242.1:p.Asn792Lys
NM_001258281.1:c.2178T>A	NP_001245210.1:p.Asn726Lys
XM_005264332.2:c.2376T>A	XP_005264389.2:p.Asn792Lys
XM_011532867.1:c.2376T>A	XP_011531169.1:p.Asn792Lys
XR_939685.1:n.2448T>A
XM_005264332.4:c.2376T>A	XP_005264389.2:p.Asn792Lys
XM_011532867.2:c.2376T>A	XP_011531169.1:p.Asn792Lys
XR_001738747.2:n.2438T>A
XR_939685.2:n.2438T>A
NM_000251.3:c.2376T>A MANE Select	NP_000242.1:p.Asn792Lys