Canonical Allele Identifier: CA2495872533
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475194_47475195delinsAG , CM000664.2:g.47475194_47475195delinsAG GRCh38
NC_000002.11:g.47702333_47702334delinsAG , CM000664.1:g.47702333_47702334delinsAG GRCh37
NC_000002.10:g.47555837_47555838delinsAG NCBI36
NG_007110.2:g.77071_77072delinsAG , LRG_218:g.77071_77072delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1929_1930delinsAG ENSP00000495641.2:p.Glu643=
ENST00000233146.7:c.1929_1930delinsAG MANE Select ENSP00000233146.2:p.Glu643=
ENST00000543555.6:c.1731_1732delinsAG ENSP00000442697.1:p.Glu577=
ENST00000644092.1:c.*229_*230delinsAG ENSP00000496351.1:n.*229_*230delinsAG
ENST00000645339.1:c.1929_1930delinsAG ENSP00000496441.1:p.Glu643=
ENST00000645506.1:c.1929_1930delinsAG ENSP00000495455.1:p.Glu643=
ENST00000646415.1:c.1929_1930delinsAG ENSP00000495543.1:p.Glu643=
ENST00000233146.6:c.1929_1930delinsAG ENSP00000233146.2:p.Glu643=
ENST00000406134.5:c.1929_1930delinsAG ENSP00000384199.1:p.Glu643=
ENST00000543555.5:c.1731_1732delinsAG ENSP00000442697.1:p.Glu577=
ENST00000610696.4:c.*325_*326delinsAG ENSP00000483159.1:n.*325_*326delinsAG
ENST00000613514.4:c.*469_*470delinsAG ENSP00000484137.1:n.*469_*470delinsAG
ENST00000617333.3:c.*695_*696delinsAG ENSP00000482468.1:n.*695_*696delinsAG
ENST00000617938.4:c.*901_*902delinsAG ENSP00000481158.1:n.*901_*902delinsAG
ENST00000621359.2:c.1929_1930delinsAG ENSP00000481416.1:p.Glu643=
NM_000251.2:c.1929_1930delinsAG , LRG_218t1:c.1929_1930delinsAG NP_000242.1:p.Glu643=
NM_001258281.1:c.1731_1732delinsAG NP_001245210.1:p.Glu577=
XM_005264332.2:c.1929_1930delinsAG XP_005264389.2:p.Glu643=
XM_011532867.1:c.1929_1930delinsAG XP_011531169.1:p.Glu643=
XR_939685.1:n.2001_2002delinsAG
XM_005264332.4:c.1929_1930delinsAG XP_005264389.2:p.Glu643=
XM_011532867.2:c.1929_1930delinsAG XP_011531169.1:p.Glu643=
XR_001738747.2:n.1991_1992delinsAG
XR_939685.2:n.1991_1992delinsAG
NM_000251.3:c.1929_1930delinsAG MANE Select NP_000242.1:p.Glu643=