Canonical Allele Identifier: CA2495872590
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475256_47475257delinsTC , CM000664.2:g.47475256_47475257delinsTC GRCh38
NC_000002.11:g.47702395_47702396delinsTC , CM000664.1:g.47702395_47702396delinsTC GRCh37
NC_000002.10:g.47555899_47555900delinsTC NCBI36
NG_007110.2:g.77133_77134delinsTC , LRG_218:g.77133_77134delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1991_1992delinsTC ENSP00000495641.2:p.Phe664=
ENST00000233146.7:c.1991_1992delinsTC MANE Select ENSP00000233146.2:p.Phe664=
ENST00000543555.6:c.1793_1794delinsTC ENSP00000442697.1:p.Phe598=
ENST00000644092.1:c.*291_*292delinsTC ENSP00000496351.1:n.*291_*292delinsTC
ENST00000645339.1:c.1991_1992delinsTC ENSP00000496441.1:p.Phe664=
ENST00000645506.1:c.1991_1992delinsTC ENSP00000495455.1:p.Phe664=
ENST00000646415.1:c.1991_1992delinsTC ENSP00000495543.1:p.Phe664=
ENST00000233146.6:c.1991_1992delinsTC ENSP00000233146.2:p.Phe664=
ENST00000406134.5:c.1991_1992delinsTC ENSP00000384199.1:p.Phe664=
ENST00000543555.5:c.1793_1794delinsTC ENSP00000442697.1:p.Phe598=
ENST00000610696.4:c.*387_*388delinsTC ENSP00000483159.1:n.*387_*388delinsTC
ENST00000613514.4:c.*531_*532delinsTC ENSP00000484137.1:n.*531_*532delinsTC
ENST00000617333.3:c.*757_*758delinsTC ENSP00000482468.1:n.*757_*758delinsTC
ENST00000617938.4:c.*963_*964delinsTC ENSP00000481158.1:n.*963_*964delinsTC
ENST00000621359.2:c.1991_1992delinsTC ENSP00000481416.1:p.Phe664=
NM_000251.2:c.1991_1992delinsTC , LRG_218t1:c.1991_1992delinsTC NP_000242.1:p.Phe664=
NM_001258281.1:c.1793_1794delinsTC NP_001245210.1:p.Phe598=
XM_005264332.2:c.1991_1992delinsTC XP_005264389.2:p.Phe664=
XM_011532867.1:c.1991_1992delinsTC XP_011531169.1:p.Phe664=
XR_939685.1:n.2063_2064delinsTC
XM_005264332.4:c.1991_1992delinsTC XP_005264389.2:p.Phe664=
XM_011532867.2:c.1991_1992delinsTC XP_011531169.1:p.Phe664=
XR_001738747.2:n.2053_2054delinsTC
XR_939685.2:n.2053_2054delinsTC
NM_000251.3:c.1991_1992delinsTC MANE Select NP_000242.1:p.Phe664=