Canonical Allele Identifier: CA346730102

Gene: MSH2

Linked Data

• ClinVar Variation Id: 455561
• ClinVar RCV Id: RCV000554251 ; RCV000565463 ; RCV004003746
• dbSNP Id: rs1553369781
• MyVariant Identifiers: chr2:g.47705581T>A (hg19) ; chr2:g.47478442T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478442T>A , CM000664.2:g.47478442T>A	GRCh38
NC_000002.11:g.47705581T>A , CM000664.1:g.47705581T>A	GRCh37
NC_000002.10:g.47559085T>A	NCBI36
NG_007110.2:g.80319T>A , LRG_218:g.80319T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2381T>A	ENSP00000495641.2:p.Ile794Lys
ENST00000233146.7:c.2381T>A MANE Select	ENSP00000233146.2:p.Ile794Lys
ENST00000543555.6:c.2183T>A	ENSP00000442697.1:p.Ile728Lys
ENST00000644092.1:c.*681T>A	ENSP00000496351.1:n.*681T>A
ENST00000644900.1:c.234T>A
ENST00000645339.1:c.2381T>A	ENSP00000496441.1:p.Ile794Lys
ENST00000645506.1:c.2381T>A	ENSP00000495455.1:p.Ile794Lys
ENST00000646415.1:c.2381T>A	ENSP00000495543.1:p.Ile794Lys
ENST00000233146.6:c.2381T>A	ENSP00000233146.2:p.Ile794Lys
ENST00000406134.5:c.2381T>A	ENSP00000384199.1:p.Ile794Lys
ENST00000543555.5:c.2183T>A	ENSP00000442697.1:p.Ile728Lys
ENST00000610696.4:c.*777T>A	ENSP00000483159.1:n.*777T>A
ENST00000613514.4:c.*921T>A	ENSP00000484137.1:n.*921T>A
ENST00000617333.3:c.*1147T>A	ENSP00000482468.1:n.*1147T>A
ENST00000617938.4:c.*1353T>A	ENSP00000481158.1:n.*1353T>A
ENST00000621359.2:c.2380T>A	ENSP00000481416.1:p.Tyr794Asn
NM_000251.2:c.2381T>A , LRG_218t1:c.2381T>A	NP_000242.1:p.Ile794Lys
NM_001258281.1:c.2183T>A	NP_001245210.1:p.Ile728Lys
XM_005264332.2:c.2381T>A	XP_005264389.2:p.Ile794Lys
XM_011532867.1:c.2381T>A	XP_011531169.1:p.Ile794Lys
XR_939685.1:n.2453T>A
XM_005264332.4:c.2381T>A	XP_005264389.2:p.Ile794Lys
XM_011532867.2:c.2381T>A	XP_011531169.1:p.Ile794Lys
XR_001738747.2:n.2443T>A
XR_939685.2:n.2443T>A
NM_000251.3:c.2381T>A MANE Select	NP_000242.1:p.Ile794Lys