Canonical Allele Identifier: CA346730704

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1721085
• ClinVar RCV Id: RCV002294797
• dbSNP Id: rs965790911
• MyVariant Identifiers: chr2:g.47707884C>G (hg19) ; chr2:g.47480745C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480745C>G , CM000664.2:g.47480745C>G	GRCh38
NC_000002.11:g.47707884C>G , CM000664.1:g.47707884C>G	GRCh37
NC_000002.10:g.47561388C>G	NCBI36
NG_007110.2:g.82622C>G , LRG_218:g.82622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2508C>G	ENSP00000495641.2:p.Phe836Leu
ENST00000233146.7:c.2508C>G MANE Select	ENSP00000233146.2:p.Phe836Leu
ENST00000543555.6:c.2310C>G	ENSP00000442697.1:p.Phe770Leu
ENST00000644092.1:c.*808C>G	ENSP00000496351.1:n.*808C>G
ENST00000644900.1:c.361C>G
ENST00000645339.1:c.2508C>G	ENSP00000496441.1:p.Phe836Leu
ENST00000645506.1:c.2508C>G	ENSP00000495455.1:p.Phe836Leu
ENST00000646415.1:c.2508C>G	ENSP00000495543.1:p.Phe836Leu
ENST00000233146.6:c.2508C>G	ENSP00000233146.2:p.Phe836Leu
ENST00000406134.5:c.2508C>G	ENSP00000384199.1:p.Phe836Leu
ENST00000543555.5:c.2310C>G	ENSP00000442697.1:p.Phe770Leu
ENST00000610696.4:c.*904C>G	ENSP00000483159.1:n.*904C>G
ENST00000613514.4:c.*1048C>G	ENSP00000484137.1:n.*1048C>G
ENST00000617333.3:c.*1274C>G	ENSP00000482468.1:n.*1274C>G
ENST00000617938.4:c.*1480C>G	ENSP00000481158.1:n.*1480C>G
ENST00000621359.2:c.*74C>G	ENSP00000481416.1:n.*74C>G
NM_000251.2:c.2508C>G , LRG_218t1:c.2508C>G	NP_000242.1:p.Phe836Leu
NM_001258281.1:c.2310C>G	NP_001245210.1:p.Phe770Leu
XM_005264332.2:c.2508C>G	XP_005264389.2:p.Phe836Leu
XM_011532867.1:c.2508C>G	XP_011531169.1:p.Phe836Leu
XR_939685.1:n.2580C>G
XM_005264332.4:c.2508C>G	XP_005264389.2:p.Phe836Leu
XM_011532867.2:c.2508C>G	XP_011531169.1:p.Phe836Leu
XR_001738747.2:n.2570C>G
XR_939685.2:n.2570C>G
NM_000251.3:c.2508C>G MANE Select	NP_000242.1:p.Phe836Leu