Canonical Allele Identifier: CA346728336

Gene: MSH2

Linked Data

• ClinVar Variation Id: 525615
• ClinVar RCV Id: RCV000629723 ; RCV001013211 ; RCV001731820 ; RCV004002772
• dbSNP Id: rs1553368568
• gnomAD v4: 2-47475075-G-A
• MyVariant Identifiers: chr2:g.47702214G>A (hg19) ; chr2:g.47475075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475075G>A , CM000664.2:g.47475075G>A	GRCh38
NC_000002.11:g.47702214G>A , CM000664.1:g.47702214G>A	GRCh37
NC_000002.10:g.47555718G>A	NCBI36
NG_007110.2:g.76952G>A , LRG_218:g.76952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1810G>A	ENSP00000495641.2:p.Ala604Thr
ENST00000233146.7:c.1810G>A MANE Select	ENSP00000233146.2:p.Ala604Thr
ENST00000543555.6:c.1612G>A	ENSP00000442697.1:p.Ala538Thr
ENST00000644092.1:c.*110G>A	ENSP00000496351.1:n.*110G>A
ENST00000645339.1:c.1810G>A	ENSP00000496441.1:p.Ala604Thr
ENST00000645506.1:c.1810G>A	ENSP00000495455.1:p.Ala604Thr
ENST00000646415.1:c.1810G>A	ENSP00000495543.1:p.Ala604Thr
ENST00000233146.6:c.1810G>A	ENSP00000233146.2:p.Ala604Thr
ENST00000406134.5:c.1810G>A	ENSP00000384199.1:p.Ala604Thr
ENST00000543555.5:c.1612G>A	ENSP00000442697.1:p.Ala538Thr
ENST00000610696.4:c.*206G>A	ENSP00000483159.1:n.*206G>A
ENST00000613514.4:c.*350G>A	ENSP00000484137.1:n.*350G>A
ENST00000617333.3:c.*576G>A	ENSP00000482468.1:n.*576G>A
ENST00000617938.4:c.*782G>A	ENSP00000481158.1:n.*782G>A
ENST00000621359.2:c.1810G>A	ENSP00000481416.1:p.Ala604Thr
NM_000251.2:c.1810G>A , LRG_218t1:c.1810G>A	NP_000242.1:p.Ala604Thr
NM_001258281.1:c.1612G>A	NP_001245210.1:p.Ala538Thr
XM_005264332.2:c.1810G>A	XP_005264389.2:p.Ala604Thr
XM_011532867.1:c.1810G>A	XP_011531169.1:p.Ala604Thr
XR_939685.1:n.1882G>A
XM_005264332.4:c.1810G>A	XP_005264389.2:p.Ala604Thr
XM_011532867.2:c.1810G>A	XP_011531169.1:p.Ala604Thr
XR_001738747.2:n.1872G>A
XR_939685.2:n.1872G>A
NM_000251.3:c.1810G>A MANE Select	NP_000242.1:p.Ala604Thr