Canonical Allele Identifier: CA16610819

Gene: MSH2

Linked Data

• ClinVar Variation Id: 408451
• ClinVar RCV Id: RCV002230356
• dbSNP Id: rs1060501988
• gnomAD v2: 2-47702384-T-A
• gnomAD v4: 2-47475245-T-A
• MyVariant Identifiers: chr2:g.47702384T>A (hg19) ; chr2:g.47475245T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475245T>A , CM000664.2:g.47475245T>A	GRCh38
NC_000002.11:g.47702384T>A , CM000664.1:g.47702384T>A	GRCh37
NC_000002.10:g.47555888T>A	NCBI36
NG_007110.2:g.77122T>A , LRG_218:g.77122T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1980T>A	ENSP00000495641.2:p.Asp660Glu
ENST00000233146.7:c.1980T>A MANE Select	ENSP00000233146.2:p.Asp660Glu
ENST00000543555.6:c.1782T>A	ENSP00000442697.1:p.Asp594Glu
ENST00000644092.1:c.*280T>A	ENSP00000496351.1:n.*280T>A
ENST00000645339.1:c.1980T>A	ENSP00000496441.1:p.Asp660Glu
ENST00000645506.1:c.1980T>A	ENSP00000495455.1:p.Asp660Glu
ENST00000646415.1:c.1980T>A	ENSP00000495543.1:p.Asp660Glu
ENST00000233146.6:c.1980T>A	ENSP00000233146.2:p.Asp660Glu
ENST00000406134.5:c.1980T>A	ENSP00000384199.1:p.Asp660Glu
ENST00000543555.5:c.1782T>A	ENSP00000442697.1:p.Asp594Glu
ENST00000610696.4:c.*376T>A	ENSP00000483159.1:n.*376T>A
ENST00000613514.4:c.*520T>A	ENSP00000484137.1:n.*520T>A
ENST00000617333.3:c.*746T>A	ENSP00000482468.1:n.*746T>A
ENST00000617938.4:c.*952T>A	ENSP00000481158.1:n.*952T>A
ENST00000621359.2:c.1980T>A	ENSP00000481416.1:p.Asp660Glu
NM_000251.2:c.1980T>A , LRG_218t1:c.1980T>A	NP_000242.1:p.Asp660Glu
NM_001258281.1:c.1782T>A	NP_001245210.1:p.Asp594Glu
XM_005264332.2:c.1980T>A	XP_005264389.2:p.Asp660Glu
XM_011532867.1:c.1980T>A	XP_011531169.1:p.Asp660Glu
XR_939685.1:n.2052T>A
XM_005264332.4:c.1980T>A	XP_005264389.2:p.Asp660Glu
XM_011532867.2:c.1980T>A	XP_011531169.1:p.Asp660Glu
XR_001738747.2:n.2042T>A
XR_939685.2:n.2042T>A
NM_000251.3:c.1980T>A MANE Select	NP_000242.1:p.Asp660Glu