Canonical Allele Identifier: CA346728596

Gene: MSH2

Linked Data

• ClinVar Variation Id: 428455
• ClinVar RCV Id: RCV000490923 ; RCV000502231 ; RCV003449341
• dbSNP Id: rs1114167811
• MyVariant Identifiers: chr2:g.47702305T>G (hg19) ; chr2:g.47475166T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475166T>G , CM000664.2:g.47475166T>G	GRCh38
NC_000002.11:g.47702305T>G , CM000664.1:g.47702305T>G	GRCh37
NC_000002.10:g.47555809T>G	NCBI36
NG_007110.2:g.77043T>G , LRG_218:g.77043T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1901T>G	ENSP00000495641.2:p.Leu634Ter
ENST00000233146.7:c.1901T>G MANE Select	ENSP00000233146.2:p.Leu634Ter
ENST00000543555.6:c.1703T>G	ENSP00000442697.1:p.Leu568Ter
ENST00000644092.1:c.*201T>G	ENSP00000496351.1:n.*201T>G
ENST00000645339.1:c.1901T>G	ENSP00000496441.1:p.Leu634Ter
ENST00000645506.1:c.1901T>G	ENSP00000495455.1:p.Leu634Ter
ENST00000646415.1:c.1901T>G	ENSP00000495543.1:p.Leu634Ter
ENST00000233146.6:c.1901T>G	ENSP00000233146.2:p.Leu634Ter
ENST00000406134.5:c.1901T>G	ENSP00000384199.1:p.Leu634Ter
ENST00000543555.5:c.1703T>G	ENSP00000442697.1:p.Leu568Ter
ENST00000610696.4:c.*297T>G	ENSP00000483159.1:n.*297T>G
ENST00000613514.4:c.*441T>G	ENSP00000484137.1:n.*441T>G
ENST00000617333.3:c.*667T>G	ENSP00000482468.1:n.*667T>G
ENST00000617938.4:c.*873T>G	ENSP00000481158.1:n.*873T>G
ENST00000621359.2:c.1901T>G	ENSP00000481416.1:p.Leu634Ter
NM_000251.2:c.1901T>G , LRG_218t1:c.1901T>G	NP_000242.1:p.Leu634Ter
NM_001258281.1:c.1703T>G	NP_001245210.1:p.Leu568Ter
XM_005264332.2:c.1901T>G	XP_005264389.2:p.Leu634Ter
XM_011532867.1:c.1901T>G	XP_011531169.1:p.Leu634Ter
XR_939685.1:n.1973T>G
XM_005264332.4:c.1901T>G	XP_005264389.2:p.Leu634Ter
XM_011532867.2:c.1901T>G	XP_011531169.1:p.Leu634Ter
XR_001738747.2:n.1963T>G
XR_939685.2:n.1963T>G
NM_000251.3:c.1901T>G MANE Select	NP_000242.1:p.Leu634Ter