Canonical Allele Identifier: CA346728355

Gene: MSH2

Linked Data

• dbSNP Id: rs2104339508
• MyVariant Identifiers: chr2:g.47702226T>A (hg19) ; chr2:g.47475087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475087T>A , CM000664.2:g.47475087T>A	GRCh38
NC_000002.11:g.47702226T>A , CM000664.1:g.47702226T>A	GRCh37
NC_000002.10:g.47555730T>A	NCBI36
NG_007110.2:g.76964T>A , LRG_218:g.76964T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1822T>A	ENSP00000495641.2:p.Phe608Ile
ENST00000233146.7:c.1822T>A MANE Select	ENSP00000233146.2:p.Phe608Ile
ENST00000543555.6:c.1624T>A	ENSP00000442697.1:p.Phe542Ile
ENST00000644092.1:c.*122T>A	ENSP00000496351.1:n.*122T>A
ENST00000645339.1:c.1822T>A	ENSP00000496441.1:p.Phe608Ile
ENST00000645506.1:c.1822T>A	ENSP00000495455.1:p.Phe608Ile
ENST00000646415.1:c.1822T>A	ENSP00000495543.1:p.Phe608Ile
ENST00000233146.6:c.1822T>A	ENSP00000233146.2:p.Phe608Ile
ENST00000406134.5:c.1822T>A	ENSP00000384199.1:p.Phe608Ile
ENST00000543555.5:c.1624T>A	ENSP00000442697.1:p.Phe542Ile
ENST00000610696.4:c.*218T>A	ENSP00000483159.1:n.*218T>A
ENST00000613514.4:c.*362T>A	ENSP00000484137.1:n.*362T>A
ENST00000617333.3:c.*588T>A	ENSP00000482468.1:n.*588T>A
ENST00000617938.4:c.*794T>A	ENSP00000481158.1:n.*794T>A
ENST00000621359.2:c.1822T>A	ENSP00000481416.1:p.Phe608Ile
NM_000251.2:c.1822T>A , LRG_218t1:c.1822T>A	NP_000242.1:p.Phe608Ile
NM_001258281.1:c.1624T>A	NP_001245210.1:p.Phe542Ile
XM_005264332.2:c.1822T>A	XP_005264389.2:p.Phe608Ile
XM_011532867.1:c.1822T>A	XP_011531169.1:p.Phe608Ile
XR_939685.1:n.1894T>A
XM_005264332.4:c.1822T>A	XP_005264389.2:p.Phe608Ile
XM_011532867.2:c.1822T>A	XP_011531169.1:p.Phe608Ile
XR_001738747.2:n.1884T>A
XR_939685.2:n.1884T>A
NM_000251.3:c.1822T>A MANE Select	NP_000242.1:p.Phe608Ile