Canonical Allele Identifier: CA346727791

Gene: MSH2

Linked Data

• dbSNP Id: rs1371291280
• MyVariant Identifiers: chr2:g.47693841T>G (hg19) ; chr2:g.47466702T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47466702T>G , CM000664.2:g.47466702T>G	GRCh38
NC_000002.11:g.47693841T>G , CM000664.1:g.47693841T>G	GRCh37
NC_000002.10:g.47547345T>G	NCBI36
NG_007110.2:g.68579T>G , LRG_218:g.68579T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1555T>G	ENSP00000495641.2:p.Phe519Val
ENST00000233146.7:c.1555T>G MANE Select	ENSP00000233146.2:p.Phe519Val
ENST00000543555.6:c.1357T>G	ENSP00000442697.1:p.Phe453Val
ENST00000644092.1:c.1555T>G	ENSP00000496351.1:p.Phe519Val
ENST00000645339.1:c.1555T>G	ENSP00000496441.1:p.Phe519Val
ENST00000645506.1:c.1555T>G	ENSP00000495455.1:p.Phe519Val
ENST00000646415.1:c.1555T>G	ENSP00000495543.1:p.Phe519Val
ENST00000233146.6:c.1555T>G	ENSP00000233146.2:p.Phe519Val
ENST00000406134.5:c.1555T>G	ENSP00000384199.1:p.Phe519Val
ENST00000543555.5:c.1357T>G	ENSP00000442697.1:p.Phe453Val
ENST00000610696.4:c.1555T>G	ENSP00000483159.1:p.Phe519Val
ENST00000613514.4:c.*95T>G	ENSP00000484137.1:n.*95T>G
ENST00000617333.3:c.*321T>G	ENSP00000482468.1:n.*321T>G
ENST00000617938.4:c.*527T>G	ENSP00000481158.1:n.*527T>G
ENST00000621359.2:c.1555T>G	ENSP00000481416.1:p.Phe519Val
NM_000251.2:c.1555T>G , LRG_218t1:c.1555T>G	NP_000242.1:p.Phe519Val
NM_001258281.1:c.1357T>G	NP_001245210.1:p.Phe453Val
XM_005264332.2:c.1555T>G	XP_005264389.2:p.Phe519Val
XM_011532867.1:c.1555T>G	XP_011531169.1:p.Phe519Val
XR_939685.1:n.1627T>G
XM_005264332.4:c.1555T>G	XP_005264389.2:p.Phe519Val
XM_011532867.2:c.1555T>G	XP_011531169.1:p.Phe519Val
XR_001738747.2:n.1617T>G
XR_939685.2:n.1617T>G
NM_000251.3:c.1555T>G MANE Select	NP_000242.1:p.Phe519Val