Canonical Allele Identifier: CA2573134679
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1553048
ClinVar RCV Id: RCV002180447

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403500_47403501delinsCA , CM000664.2:g.47403500_47403501delinsCA GRCh38
NC_000002.11:g.47630639_47630640delinsCA , CM000664.1:g.47630639_47630640delinsCA GRCh37
NC_000002.10:g.47484143_47484144delinsCA NCBI36
NG_007110.2:g.5377_5378delinsCA , LRG_218:g.5377_5378delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.211+98_211+99delinsCA ENSP00000495641.2:n.211+98_211+99delinsCA
ENST00000233146.7:c.211+98_211+99delinsCA MANE Select ENSP00000233146.2:n.211+98_211+99delinsCA
ENST00000543555.6:c.13+98_13+99delinsCA ENSP00000442697.1:n.13+98_13+99delinsCA
ENST00000644092.1:c.211+98_211+99delinsCA ENSP00000496351.1:n.211+98_211+99delinsCA
ENST00000645339.1:c.211+98_211+99delinsCA ENSP00000496441.1:n.211+98_211+99delinsCA
ENST00000645506.1:c.211+98_211+99delinsCA ENSP00000495455.1:n.211+98_211+99delinsCA
ENST00000646415.1:c.211+98_211+99delinsCA ENSP00000495543.1:n.211+98_211+99delinsCA
ENST00000233146.6:c.211+98_211+99delinsCA ENSP00000233146.2:n.211+98_211+99delinsCA
ENST00000406134.5:c.211+98_211+99delinsCA ENSP00000384199.1:n.211+98_211+99delinsCA
ENST00000454849.5:c.13+98_13+99delinsCA ENSP00000411482.1:n.13+98_13+99delinsCA
ENST00000543555.5:c.13+98_13+99delinsCA ENSP00000442697.1:n.13+98_13+99delinsCA
ENST00000610696.4:c.211+98_211+99delinsCA ENSP00000483159.1:n.211+98_211+99delinsCA
ENST00000613514.4:c.211+98_211+99delinsCA ENSP00000484137.1:n.211+98_211+99delinsCA
ENST00000617333.3:c.211+98_211+99delinsCA ENSP00000482468.1:n.211+98_211+99delinsCA
ENST00000617938.4:c.211+98_211+99delinsCA ENSP00000481158.1:n.211+98_211+99delinsCA
ENST00000621359.2:c.211+98_211+99delinsCA ENSP00000481416.1:n.211+98_211+99delinsCA
NM_000251.2:c.211+98_211+99delinsCA , LRG_218t1:c.211+98_211+99delinsCA NP_000242.1:n.211+98_211+99delinsCA
NM_001258281.1:c.13+98_13+99delinsCA NP_001245210.1:n.13+98_13+99delinsCA
XM_005264332.2:c.211+98_211+99delinsCA XP_005264389.2:n.211+98_211+99delinsCA
XM_011532867.1:c.211+98_211+99delinsCA XP_011531169.1:n.211+98_211+99delinsCA
XR_939685.1:n.283+98_283+99delinsCA
XM_005264332.4:c.211+98_211+99delinsCA XP_005264389.2:n.211+98_211+99delinsCA
XM_011532867.2:c.211+98_211+99delinsCA XP_011531169.1:n.211+98_211+99delinsCA
XR_001738747.2:n.273+98_273+99delinsCA
XR_939685.2:n.273+98_273+99delinsCA
NM_000251.3:c.211+98_211+99delinsCA MANE Select NP_000242.1:n.211+98_211+99delinsCA