Canonical Allele Identifier: CA039794

Gene: MSH2

Linked Data

• ClinVar Variation Id: 449678
• ClinVar RCV Id: RCV000521261 ; RCV000583363 ; RCV001356013 ; RCV001553591 ; RCV002060268 ; RCV004003605
• dbSNP Id: rs761205332
• ExAC: 2:47639540 T / C
• gnomAD v2: 2-47639540-T-C
• gnomAD v4: 2-47412401-T-C
• MyVariant Identifiers: chr2:g.47639540T>C (hg19) ; chr2:g.47412401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412401T>C , CM000664.2:g.47412401T>C	GRCh38
NC_000002.11:g.47639540T>C , CM000664.1:g.47639540T>C	GRCh37
NC_000002.10:g.47493044T>C	NCBI36
NG_007110.2:g.14278T>C , LRG_218:g.14278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.646-13T>C	ENSP00000495641.2:n.646-13T>C
ENST00000233146.7:c.646-13T>C MANE Select	ENSP00000233146.2:n.646-13T>C
ENST00000543555.6:c.448-13T>C	ENSP00000442697.1:n.448-13T>C
ENST00000644092.1:c.646-13T>C	ENSP00000496351.1:n.646-13T>C
ENST00000645339.1:c.646-13T>C	ENSP00000496441.1:n.646-13T>C
ENST00000645506.1:c.646-13T>C	ENSP00000495455.1:n.646-13T>C
ENST00000646415.1:c.646-13T>C	ENSP00000495543.1:n.646-13T>C
ENST00000233146.6:c.646-13T>C	ENSP00000233146.2:n.646-13T>C
ENST00000406134.5:c.646-13T>C	ENSP00000384199.1:n.646-13T>C
ENST00000543555.5:c.448-13T>C	ENSP00000442697.1:n.448-13T>C
ENST00000610696.4:c.646-13T>C	ENSP00000483159.1:n.646-13T>C
ENST00000613514.4:c.646-13T>C	ENSP00000484137.1:n.646-13T>C
ENST00000617333.3:c.646-13T>C	ENSP00000482468.1:n.646-13T>C
ENST00000617938.4:c.646-13T>C	ENSP00000481158.1:n.646-13T>C
ENST00000621359.2:c.646-13T>C	ENSP00000481416.1:n.646-13T>C
NM_000251.2:c.646-13T>C , LRG_218t1:c.646-13T>C	NP_000242.1:n.646-13T>C
NM_001258281.1:c.448-13T>C	NP_001245210.1:n.448-13T>C
XM_005264332.2:c.646-13T>C	XP_005264389.2:n.646-13T>C
XM_011532867.1:c.646-13T>C	XP_011531169.1:n.646-13T>C
XR_939685.1:n.718-13T>C
XM_005264332.4:c.646-13T>C	XP_005264389.2:n.646-13T>C
XM_011532867.2:c.646-13T>C	XP_011531169.1:n.646-13T>C
XR_001738747.2:n.708-13T>C
XR_939685.2:n.708-13T>C
NM_000251.3:c.646-13T>C MANE Select	NP_000242.1:n.646-13T>C