Canonical Allele Identifier: CA346729225
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 923587
dbSNP Id: rs1428704795
gnomAD v2: 2-47703595-T-A
gnomAD v4: 2-47476456-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476456T>A , CM000664.2:g.47476456T>A GRCh38
NC_000002.11:g.47703595T>A , CM000664.1:g.47703595T>A GRCh37
NC_000002.10:g.47557099T>A NCBI36
NG_007110.2:g.78333T>A , LRG_218:g.78333T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2095T>A ENSP00000495641.2:p.Ser699Thr
ENST00000233146.7:c.2095T>A MANE Select ENSP00000233146.2:p.Ser699Thr
ENST00000543555.6:c.1897T>A ENSP00000442697.1:p.Ser633Thr
ENST00000644092.1:c.*395T>A ENSP00000496351.1:n.*395T>A
ENST00000645339.1:c.2095T>A ENSP00000496441.1:p.Ser699Thr
ENST00000645506.1:c.2095T>A ENSP00000495455.1:p.Ser699Thr
ENST00000646415.1:c.2095T>A ENSP00000495543.1:p.Ser699Thr
ENST00000233146.6:c.2095T>A ENSP00000233146.2:p.Ser699Thr
ENST00000406134.5:c.2095T>A ENSP00000384199.1:p.Ser699Thr
ENST00000543555.5:c.1897T>A ENSP00000442697.1:p.Ser633Thr
ENST00000610696.4:c.*491T>A ENSP00000483159.1:n.*491T>A
ENST00000613514.4:c.*635T>A ENSP00000484137.1:n.*635T>A
ENST00000617333.3:c.*861T>A ENSP00000482468.1:n.*861T>A
ENST00000617938.4:c.*1067T>A ENSP00000481158.1:n.*1067T>A
ENST00000621359.2:c.2095T>A ENSP00000481416.1:p.Ser699Thr
NM_000251.2:c.2095T>A , LRG_218t1:c.2095T>A NP_000242.1:p.Ser699Thr
NM_001258281.1:c.1897T>A NP_001245210.1:p.Ser633Thr
XM_005264332.2:c.2095T>A XP_005264389.2:p.Ser699Thr
XM_011532867.1:c.2095T>A XP_011531169.1:p.Ser699Thr
XR_939685.1:n.2167T>A
XM_005264332.4:c.2095T>A XP_005264389.2:p.Ser699Thr
XM_011532867.2:c.2095T>A XP_011531169.1:p.Ser699Thr
XR_001738747.2:n.2157T>A
XR_939685.2:n.2157T>A
NM_000251.3:c.2095T>A MANE Select NP_000242.1:p.Ser699Thr