Canonical Allele Identifier: CA2580067372
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2061679
ClinVar RCV Id: RCV002942912

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403400_47403413dup , CM000664.2:g.47403400_47403413dup GRCh38
NC_000002.11:g.47630539_47630552dup , CM000664.1:g.47630539_47630552dup GRCh37
NC_000002.10:g.47484043_47484056dup NCBI36
NG_007110.2:g.5277_5290dup , LRG_218:g.5277_5290dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.209_211+11dup
ENST00000233146.7:c.209_211+11dup
ENST00000543555.6:c.11_13+11dup
ENST00000644092.1:c.209_211+11dup
ENST00000645339.1:c.209_211+11dup
ENST00000645506.1:c.209_211+11dup
ENST00000646415.1:c.209_211+11dup
ENST00000233146.6:c.209_211+11dup
ENST00000406134.5:c.209_211+11dup
ENST00000454849.5:c.11_13+11dup
ENST00000543555.5:c.11_13+11dup
ENST00000610696.4:c.209_211+11dup
ENST00000613514.4:c.209_211+11dup
ENST00000617333.3:c.209_211+11dup
ENST00000617938.4:c.209_211+11dup
ENST00000621359.2:c.209_211+11dup
NM_000251.2:c.209_211+11dup , LRG_218t1:c.209_211+11dup
NM_001258281.1:c.11_13+11dup
XM_005264332.2:c.209_211+11dup
XM_011532867.1:c.209_211+11dup
XR_939685.1:n.281_283+11dup
XM_005264332.4:c.209_211+11dup
XM_011532867.2:c.209_211+11dup
XR_001738747.2:n.271_273+11dup
XR_939685.2:n.271_273+11dup
NM_000251.3:c.209_211+11dup