Canonical Allele Identifier: CA016954
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90511
ClinVar RCV Id: RCV000076006
dbSNP Id: rs63751483

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47416390_47416391dup , CM000664.2:g.47416390_47416391dup GRCh38
NC_000002.11:g.47643529_47643530dup , CM000664.1:g.47643529_47643530dup GRCh37
NC_000002.10:g.47497033_47497034dup NCBI36
NG_007110.2:g.18267_18268dup , LRG_218:g.18267_18268dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1037_1038dup ENSP00000495641.2:p.Lys347LeufsTer11
ENST00000233146.7:c.1037_1038dup MANE Select ENSP00000233146.2:p.Lys347LeufsTer11
ENST00000543555.6:c.839_840dup ENSP00000442697.1:p.Lys281LeufsTer11
ENST00000644092.1:c.1037_1038dup ENSP00000496351.1:p.Lys347LeufsTer11
ENST00000645339.1:c.1037_1038dup ENSP00000496441.1:p.Lys347LeufsTer11
ENST00000645506.1:c.1037_1038dup ENSP00000495455.1:p.Lys347LeufsTer11
ENST00000646415.1:c.1037_1038dup ENSP00000495543.1:p.Lys347LeufsTer11
ENST00000233146.6:c.1037_1038dup ENSP00000233146.2:p.Lys347LeufsTer11
ENST00000406134.5:c.1037_1038dup ENSP00000384199.1:p.Lys347LeufsTer11
ENST00000543555.5:c.839_840dup ENSP00000442697.1:p.Lys281LeufsTer11
ENST00000610696.4:c.1037_1038dup ENSP00000483159.1:p.Lys347LeufsTer11
ENST00000613514.4:c.1037_1038dup ENSP00000484137.1:p.Lys347LeufsTer11
ENST00000617333.3:c.1037_1038dup ENSP00000482468.1:p.Lys347LeufsTer11
ENST00000617938.4:c.*9_*10dup ENSP00000481158.1:n.*9_*10dup
ENST00000621359.2:c.1037_1038dup ENSP00000481416.1:p.Lys347LeufsTer11
NM_000251.2:c.1037_1038dup , LRG_218t1:c.1037_1038dup NP_000242.1:p.Lys347LeufsTer11
NM_001258281.1:c.839_840dup NP_001245210.1:p.Lys281LeufsTer11
XM_005264332.2:c.1037_1038dup XP_005264389.2:p.Lys347LeufsTer11
XM_011532867.1:c.1037_1038dup XP_011531169.1:p.Lys347LeufsTer11
XR_939685.1:n.1109_1110dup
XM_005264332.4:c.1037_1038dup XP_005264389.2:p.Lys347LeufsTer11
XM_011532867.2:c.1037_1038dup XP_011531169.1:p.Lys347LeufsTer11
XR_001738747.2:n.1099_1100dup
XR_939685.2:n.1099_1100dup
NM_000251.3:c.1037_1038dup MANE Select NP_000242.1:p.Lys347LeufsTer11