Canonical Allele Identifier: CA2499215977

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1048820
• ClinVar RCV Id: RCV001354102

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403188_47404266del , CM000664.2:g.47403188_47404266del	GRCh38
NC_000002.11:g.47630327_47631405del , CM000664.1:g.47630327_47631405del	GRCh37
NC_000002.10:g.47483831_47484909del	NCBI36
NG_007110.2:g.5065_6143del , LRG_218:g.5065_6143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.-4_211+864del
ENST00000233146.7:c.-4_211+864del
ENST00000543555.6:c.-31+13_13+864del
ENST00000644092.1:c.-4_211+864del
ENST00000645339.1:c.-4_211+864del
ENST00000645506.1:c.-4_211+864del
ENST00000646415.1:c.-4_211+864del
ENST00000233146.6:c.-4_211+864del
ENST00000406134.5:c.-4_211+864del
ENST00000454849.5:c.-31+13_13+864del
ENST00000543555.5:c.-31+13_13+864del
ENST00000610696.4:c.-4_211+864del
ENST00000613514.4:c.-4_211+864del
ENST00000617333.3:c.-4_211+864del
ENST00000617938.4:c.-4_211+864del
ENST00000621359.2:c.-4_211+864del
NM_000251.2:c.-4_211+864del , LRG_218t1:c.-4_211+864del
NM_001258281.1:c.-31+13_13+864del
XM_005264332.2:c.-4_211+864del
XM_011532867.1:c.-4_211+864del
XR_939685.1:n.69_283+864del
XM_005264332.4:c.-4_211+864del
XM_011532867.2:c.-4_211+864del
XR_001738747.2:n.59_273+864del
XR_939685.2:n.59_273+864del
NM_000251.3:c.-4_211+864del