Canonical Allele Identifier: CA031393
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 224577
dbSNP Id: rs747504492
gnomAD v2: 2-47702200-T-C
gnomAD v3: 2-47475061-T-C
gnomAD v4: 2-47475061-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475061T>C , CM000664.2:g.47475061T>C GRCh38
NC_000002.11:g.47702200T>C , CM000664.1:g.47702200T>C GRCh37
NC_000002.10:g.47555704T>C NCBI36
NG_007110.2:g.76938T>C , LRG_218:g.76938T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1796T>C ENSP00000495641.2:p.Leu599Ser
ENST00000233146.7:c.1796T>C MANE Select ENSP00000233146.2:p.Leu599Ser
ENST00000543555.6:c.1598T>C ENSP00000442697.1:p.Leu533Ser
ENST00000644092.1:c.*96T>C ENSP00000496351.1:n.*96T>C
ENST00000645339.1:c.1796T>C ENSP00000496441.1:p.Leu599Ser
ENST00000645506.1:c.1796T>C ENSP00000495455.1:p.Leu599Ser
ENST00000646415.1:c.1796T>C ENSP00000495543.1:p.Leu599Ser
ENST00000233146.6:c.1796T>C ENSP00000233146.2:p.Leu599Ser
ENST00000406134.5:c.1796T>C ENSP00000384199.1:p.Leu599Ser
ENST00000543555.5:c.1598T>C ENSP00000442697.1:p.Leu533Ser
ENST00000610696.4:c.*192T>C ENSP00000483159.1:n.*192T>C
ENST00000613514.4:c.*336T>C ENSP00000484137.1:n.*336T>C
ENST00000617333.3:c.*562T>C ENSP00000482468.1:n.*562T>C
ENST00000617938.4:c.*768T>C ENSP00000481158.1:n.*768T>C
ENST00000621359.2:c.1796T>C ENSP00000481416.1:p.Leu599Ser
NM_000251.2:c.1796T>C , LRG_218t1:c.1796T>C NP_000242.1:p.Leu599Ser
NM_001258281.1:c.1598T>C NP_001245210.1:p.Leu533Ser
XM_005264332.2:c.1796T>C XP_005264389.2:p.Leu599Ser
XM_011532867.1:c.1796T>C XP_011531169.1:p.Leu599Ser
XR_939685.1:n.1868T>C
XM_005264332.4:c.1796T>C XP_005264389.2:p.Leu599Ser
XM_011532867.2:c.1796T>C XP_011531169.1:p.Leu599Ser
XR_001738747.2:n.1858T>C
XR_939685.2:n.1858T>C
NM_000251.3:c.1796T>C MANE Select NP_000242.1:p.Leu599Ser