Canonical Allele Identifier: CA2495873338
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476373_47476374delinsAT , CM000664.2:g.47476373_47476374delinsAT GRCh38
NC_000002.11:g.47703512_47703513delinsAT , CM000664.1:g.47703512_47703513delinsAT GRCh37
NC_000002.10:g.47557016_47557017delinsAT NCBI36
NG_007110.2:g.78250_78251delinsAT , LRG_218:g.78250_78251delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2012_2013delinsAT ENSP00000495641.2:p.Asn671=
ENST00000233146.7:c.2012_2013delinsAT MANE Select ENSP00000233146.2:p.Asn671=
ENST00000543555.6:c.1814_1815delinsAT ENSP00000442697.1:p.Asn605=
ENST00000644092.1:c.*312_*313delinsAT ENSP00000496351.1:n.*312_*313delinsAT
ENST00000645339.1:c.2012_2013delinsAT ENSP00000496441.1:p.Asn671=
ENST00000645506.1:c.2012_2013delinsAT ENSP00000495455.1:p.Asn671=
ENST00000646415.1:c.2012_2013delinsAT ENSP00000495543.1:p.Asn671=
ENST00000233146.6:c.2012_2013delinsAT ENSP00000233146.2:p.Asn671=
ENST00000406134.5:c.2012_2013delinsAT ENSP00000384199.1:p.Asn671=
ENST00000543555.5:c.1814_1815delinsAT ENSP00000442697.1:p.Asn605=
ENST00000610696.4:c.*408_*409delinsAT ENSP00000483159.1:n.*408_*409delinsAT
ENST00000613514.4:c.*552_*553delinsAT ENSP00000484137.1:n.*552_*553delinsAT
ENST00000617333.3:c.*778_*779delinsAT ENSP00000482468.1:n.*778_*779delinsAT
ENST00000617938.4:c.*984_*985delinsAT ENSP00000481158.1:n.*984_*985delinsAT
ENST00000621359.2:c.2012_2013delinsAT ENSP00000481416.1:p.Asn671=
NM_000251.2:c.2012_2013delinsAT , LRG_218t1:c.2012_2013delinsAT NP_000242.1:p.Asn671=
NM_001258281.1:c.1814_1815delinsAT NP_001245210.1:p.Asn605=
XM_005264332.2:c.2012_2013delinsAT XP_005264389.2:p.Asn671=
XM_011532867.1:c.2012_2013delinsAT XP_011531169.1:p.Asn671=
XR_939685.1:n.2084_2085delinsAT
XM_005264332.4:c.2012_2013delinsAT XP_005264389.2:p.Asn671=
XM_011532867.2:c.2012_2013delinsAT XP_011531169.1:p.Asn671=
XR_001738747.2:n.2074_2075delinsAT
XR_939685.2:n.2074_2075delinsAT
NM_000251.3:c.2012_2013delinsAT MANE Select NP_000242.1:p.Asn671=