Canonical Allele Identifier: CA2495872546

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475208_47475223delinsTTGCATTTATTCCTAA , CM000664.2:g.47475208_47475223delinsTTGCATTTATTCCTAA	GRCh38
NC_000002.11:g.47702347_47702362delinsTTGCATTTATTCCTAA , CM000664.1:g.47702347_47702362delinsTTGCATTTATTCCTAA	GRCh37
NC_000002.10:g.47555851_47555866delinsTTGCATTTATTCCTAA	NCBI36
NG_007110.2:g.77085_77100delinsTTGCATTTATTCCTAA , LRG_218:g.77085_77100delinsTTGCATTTATTCCTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1943_1958delinsTTGCATTTATTCCTAA	ENSP00000495641.2:p.Ile648=
ENST00000233146.7:c.1943_1958delinsTTGCATTTATTCCTAA MANE Select	ENSP00000233146.2:p.Ile648=
ENST00000543555.6:c.1745_1760delinsTTGCATTTATTCCTAA	ENSP00000442697.1:p.Ile582=
ENST00000644092.1:c.*243_*258delinsTTGCATTTATTCCTAA	ENSP00000496351.1:n.*243_*258delinsTTGCATTTATTCCTAA
ENST00000645339.1:c.1943_1958delinsTTGCATTTATTCCTAA	ENSP00000496441.1:p.Ile648=
ENST00000645506.1:c.1943_1958delinsTTGCATTTATTCCTAA	ENSP00000495455.1:p.Ile648=
ENST00000646415.1:c.1943_1958delinsTTGCATTTATTCCTAA	ENSP00000495543.1:p.Ile648=
ENST00000233146.6:c.1943_1958delinsTTGCATTTATTCCTAA	ENSP00000233146.2:p.Ile648=
ENST00000406134.5:c.1943_1958delinsTTGCATTTATTCCTAA	ENSP00000384199.1:p.Ile648=
ENST00000543555.5:c.1745_1760delinsTTGCATTTATTCCTAA	ENSP00000442697.1:p.Ile582=
ENST00000610696.4:c.*339_*354delinsTTGCATTTATTCCTAA	ENSP00000483159.1:n.*339_*354delinsTTGCATTTATTCCTAA
ENST00000613514.4:c.*483_*498delinsTTGCATTTATTCCTAA	ENSP00000484137.1:n.*483_*498delinsTTGCATTTATTCCTAA
ENST00000617333.3:c.*709_*724delinsTTGCATTTATTCCTAA	ENSP00000482468.1:n.*709_*724delinsTTGCATTTATTCCTAA
ENST00000617938.4:c.*915_*930delinsTTGCATTTATTCCTAA	ENSP00000481158.1:n.*915_*930delinsTTGCATTTATTCCTAA
ENST00000621359.2:c.1943_1958delinsTTGCATTTATTCCTAA	ENSP00000481416.1:p.Ile648=
NM_000251.2:c.1943_1958delinsTTGCATTTATTCCTAA , LRG_218t1:c.1943_1958delinsTTGCATTTATTCCTAA	NP_000242.1:p.Ile648=
NM_001258281.1:c.1745_1760delinsTTGCATTTATTCCTAA	NP_001245210.1:p.Ile582=
XM_005264332.2:c.1943_1958delinsTTGCATTTATTCCTAA	XP_005264389.2:p.Ile648=
XM_011532867.1:c.1943_1958delinsTTGCATTTATTCCTAA	XP_011531169.1:p.Ile648=
XR_939685.1:n.2015_2030delinsTTGCATTTATTCCTAA
XM_005264332.4:c.1943_1958delinsTTGCATTTATTCCTAA	XP_005264389.2:p.Ile648=
XM_011532867.2:c.1943_1958delinsTTGCATTTATTCCTAA	XP_011531169.1:p.Ile648=
XR_001738747.2:n.2005_2020delinsTTGCATTTATTCCTAA
XR_939685.2:n.2005_2020delinsTTGCATTTATTCCTAA
NM_000251.3:c.1943_1958delinsTTGCATTTATTCCTAA MANE Select	NP_000242.1:p.Ile648=