Canonical Allele Identifier: CA2495873494
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476405_47476408delinsACTG , CM000664.2:g.47476405_47476408delinsACTG GRCh38
NC_000002.11:g.47703544_47703547delinsACTG , CM000664.1:g.47703544_47703547delinsACTG GRCh37
NC_000002.10:g.47557048_47557051delinsACTG NCBI36
NG_007110.2:g.78282_78285delinsACTG , LRG_218:g.78282_78285delinsACTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2044_2047delinsACTG ENSP00000495641.2:p.Thr682=
ENST00000233146.7:c.2044_2047delinsACTG MANE Select ENSP00000233146.2:p.Thr682=
ENST00000543555.6:c.1846_1849delinsACTG ENSP00000442697.1:p.Thr616=
ENST00000644092.1:c.*344_*347delinsACTG ENSP00000496351.1:n.*344_*347delinsACTG
ENST00000645339.1:c.2044_2047delinsACTG ENSP00000496441.1:p.Thr682=
ENST00000645506.1:c.2044_2047delinsACTG ENSP00000495455.1:p.Thr682=
ENST00000646415.1:c.2044_2047delinsACTG ENSP00000495543.1:p.Thr682=
ENST00000233146.6:c.2044_2047delinsACTG ENSP00000233146.2:p.Thr682=
ENST00000406134.5:c.2044_2047delinsACTG ENSP00000384199.1:p.Thr682=
ENST00000543555.5:c.1846_1849delinsACTG ENSP00000442697.1:p.Thr616=
ENST00000610696.4:c.*440_*443delinsACTG ENSP00000483159.1:n.*440_*443delinsACTG
ENST00000613514.4:c.*584_*587delinsACTG ENSP00000484137.1:n.*584_*587delinsACTG
ENST00000617333.3:c.*810_*813delinsACTG ENSP00000482468.1:n.*810_*813delinsACTG
ENST00000617938.4:c.*1016_*1019delinsACTG ENSP00000481158.1:n.*1016_*1019delinsACTG
ENST00000621359.2:c.2044_2047delinsACTG ENSP00000481416.1:p.Thr682=
NM_000251.2:c.2044_2047delinsACTG , LRG_218t1:c.2044_2047delinsACTG NP_000242.1:p.Thr682=
NM_001258281.1:c.1846_1849delinsACTG NP_001245210.1:p.Thr616=
XM_005264332.2:c.2044_2047delinsACTG XP_005264389.2:p.Thr682=
XM_011532867.1:c.2044_2047delinsACTG XP_011531169.1:p.Thr682=
XR_939685.1:n.2116_2119delinsACTG
XM_005264332.4:c.2044_2047delinsACTG XP_005264389.2:p.Thr682=
XM_011532867.2:c.2044_2047delinsACTG XP_011531169.1:p.Thr682=
XR_001738747.2:n.2106_2109delinsACTG
XR_939685.2:n.2106_2109delinsACTG
NM_000251.3:c.2044_2047delinsACTG MANE Select NP_000242.1:p.Thr682=