Canonical Allele Identifier: CA16604253

Gene: MSH2

Linked Data

• ClinVar Variation Id: 392348
• ClinVar RCV Id: RCV000435621 ; RCV000580521 ; RCV000679299 ; RCV002056657
• dbSNP Id: rs1057524452
• gnomAD v2: 2-47703491-T-C
• gnomAD v3: 2-47476352-T-C
• gnomAD v4: 2-47476352-T-C
• MyVariant Identifiers: chr2:g.47703491T>C (hg19) ; chr2:g.47476352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476352T>C , CM000664.2:g.47476352T>C	GRCh38
NC_000002.11:g.47703491T>C , CM000664.1:g.47703491T>C	GRCh37
NC_000002.10:g.47556995T>C	NCBI36
NG_007110.2:g.78229T>C , LRG_218:g.78229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2006-15T>C	ENSP00000495641.2:n.2006-15T>C
ENST00000233146.7:c.2006-15T>C MANE Select	ENSP00000233146.2:n.2006-15T>C
ENST00000543555.6:c.1808-15T>C	ENSP00000442697.1:n.1808-15T>C
ENST00000644092.1:c.*306-15T>C	ENSP00000496351.1:n.*306-15T>C
ENST00000645339.1:c.2006-15T>C	ENSP00000496441.1:n.2006-15T>C
ENST00000645506.1:c.2006-15T>C	ENSP00000495455.1:n.2006-15T>C
ENST00000646415.1:c.2006-15T>C	ENSP00000495543.1:n.2006-15T>C
ENST00000233146.6:c.2006-15T>C	ENSP00000233146.2:n.2006-15T>C
ENST00000406134.5:c.2006-15T>C	ENSP00000384199.1:n.2006-15T>C
ENST00000543555.5:c.1808-15T>C	ENSP00000442697.1:n.1808-15T>C
ENST00000610696.4:c.*402-15T>C	ENSP00000483159.1:n.*402-15T>C
ENST00000613514.4:c.*546-15T>C	ENSP00000484137.1:n.*546-15T>C
ENST00000617333.3:c.*772-15T>C	ENSP00000482468.1:n.*772-15T>C
ENST00000617938.4:c.*978-15T>C	ENSP00000481158.1:n.*978-15T>C
ENST00000621359.2:c.2006-15T>C	ENSP00000481416.1:n.2006-15T>C
NM_000251.2:c.2006-15T>C , LRG_218t1:c.2006-15T>C	NP_000242.1:n.2006-15T>C
NM_001258281.1:c.1808-15T>C	NP_001245210.1:n.1808-15T>C
XM_005264332.2:c.2006-15T>C	XP_005264389.2:n.2006-15T>C
XM_011532867.1:c.2006-15T>C	XP_011531169.1:n.2006-15T>C
XR_939685.1:n.2078-15T>C
XM_005264332.4:c.2006-15T>C	XP_005264389.2:n.2006-15T>C
XM_011532867.2:c.2006-15T>C	XP_011531169.1:n.2006-15T>C
XR_001738747.2:n.2068-15T>C
XR_939685.2:n.2068-15T>C
NM_000251.3:c.2006-15T>C MANE Select	NP_000242.1:n.2006-15T>C