Canonical Allele Identifier: CA2495874485

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478291_47478294delinsTTAA , CM000664.2:g.47478291_47478294delinsTTAA	GRCh38
NC_000002.11:g.47705430_47705433delinsTTAA , CM000664.1:g.47705430_47705433delinsTTAA	GRCh37
NC_000002.10:g.47558934_47558937delinsTTAA	NCBI36
NG_007110.2:g.80168_80171delinsTTAA , LRG_218:g.80168_80171delinsTTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2230_2233delinsTTAA	ENSP00000495641.2:p.Leu744=
ENST00000233146.7:c.2230_2233delinsTTAA MANE Select	ENSP00000233146.2:p.Leu744=
ENST00000543555.6:c.2032_2035delinsTTAA	ENSP00000442697.1:p.Leu678=
ENST00000644092.1:c.*530_*533delinsTTAA	ENSP00000496351.1:n.*530_*533delinsTTAA
ENST00000644900.1:c.83_86delinsTTAA
ENST00000645339.1:c.2230_2233delinsTTAA	ENSP00000496441.1:p.Leu744=
ENST00000645506.1:c.2230_2233delinsTTAA	ENSP00000495455.1:p.Leu744=
ENST00000646415.1:c.2230_2233delinsTTAA	ENSP00000495543.1:p.Leu744=
ENST00000233146.6:c.2230_2233delinsTTAA	ENSP00000233146.2:p.Leu744=
ENST00000406134.5:c.2230_2233delinsTTAA	ENSP00000384199.1:p.Leu744=
ENST00000543555.5:c.2032_2035delinsTTAA	ENSP00000442697.1:p.Leu678=
ENST00000610696.4:c.*626_*629delinsTTAA	ENSP00000483159.1:n.*626_*629delinsTTAA
ENST00000613514.4:c.*770_*773delinsTTAA	ENSP00000484137.1:n.*770_*773delinsTTAA
ENST00000617333.3:c.*996_*999delinsTTAA	ENSP00000482468.1:n.*996_*999delinsTTAA
ENST00000617938.4:c.*1202_*1205delinsTTAA	ENSP00000481158.1:n.*1202_*1205delinsTTAA
ENST00000621359.2:c.2230_2233delinsTTAA	ENSP00000481416.1:p.Leu744=
NM_000251.2:c.2230_2233delinsTTAA , LRG_218t1:c.2230_2233delinsTTAA	NP_000242.1:p.Leu744=
NM_001258281.1:c.2032_2035delinsTTAA	NP_001245210.1:p.Leu678=
XM_005264332.2:c.2230_2233delinsTTAA	XP_005264389.2:p.Leu744=
XM_011532867.1:c.2230_2233delinsTTAA	XP_011531169.1:p.Leu744=
XR_939685.1:n.2302_2305delinsTTAA
XM_005264332.4:c.2230_2233delinsTTAA	XP_005264389.2:p.Leu744=
XM_011532867.2:c.2230_2233delinsTTAA	XP_011531169.1:p.Leu744=
XR_001738747.2:n.2292_2295delinsTTAA
XR_939685.2:n.2292_2295delinsTTAA
NM_000251.3:c.2230_2233delinsTTAA MANE Select	NP_000242.1:p.Leu744=