Canonical Allele Identifier: CA16610873
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 408543
dbSNP Id: rs1060502029

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47463114_47463117delinsAAA , CM000664.2:g.47463114_47463117delinsAAA GRCh38
NC_000002.11:g.47690253_47690256delinsAAA , CM000664.1:g.47690253_47690256delinsAAA GRCh37
NC_000002.10:g.47543757_47543760delinsAAA NCBI36
NG_007110.2:g.64991_64994delinsAAA , LRG_218:g.64991_64994delinsAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1470_1473delinsAAA ENSP00000495641.2:p.Met492CysfsTer5
ENST00000233146.7:c.1470_1473delinsAAA MANE Select ENSP00000233146.2:p.Met492CysfsTer5
ENST00000543555.6:c.1272_1275delinsAAA ENSP00000442697.1:p.Met426CysfsTer5
ENST00000644092.1:c.1470_1473delinsAAA ENSP00000496351.1:p.Met492CysfsTer5
ENST00000645339.1:c.1470_1473delinsAAA ENSP00000496441.1:p.Met492CysfsTer5
ENST00000645506.1:c.1470_1473delinsAAA ENSP00000495455.1:p.Met492CysfsTer5
ENST00000646415.1:c.1470_1473delinsAAA ENSP00000495543.1:p.Met492CysfsTer5
ENST00000233146.6:c.1470_1473delinsAAA ENSP00000233146.2:p.Met492CysfsTer5
ENST00000406134.5:c.1470_1473delinsAAA ENSP00000384199.1:p.Met492CysfsTer5
ENST00000543555.5:c.1272_1275delinsAAA ENSP00000442697.1:p.Met426CysfsTer5
ENST00000610696.4:c.1470_1473delinsAAA ENSP00000483159.1:p.Met492CysfsTer5
ENST00000613514.4:c.*10_*13delinsAAA ENSP00000484137.1:n.*10_*13delinsAAA
ENST00000617333.3:c.*236_*239delinsAAA ENSP00000482468.1:n.*236_*239delinsAAA
ENST00000617938.4:c.*442_*445delinsAAA ENSP00000481158.1:n.*442_*445delinsAAA
ENST00000621359.2:c.1470_1473delinsAAA ENSP00000481416.1:p.Met492CysfsTer5
NM_000251.2:c.1470_1473delinsAAA , LRG_218t1:c.1470_1473delinsAAA NP_000242.1:p.Met492CysfsTer5
NM_001258281.1:c.1272_1275delinsAAA NP_001245210.1:p.Met426CysfsTer5
XM_005264332.2:c.1470_1473delinsAAA XP_005264389.2:p.Met492CysfsTer5
XM_011532867.1:c.1470_1473delinsAAA XP_011531169.1:p.Met492CysfsTer5
XR_939685.1:n.1542_1545delinsAAA
XM_005264332.4:c.1470_1473delinsAAA XP_005264389.2:p.Met492CysfsTer5
XM_011532867.2:c.1470_1473delinsAAA XP_011531169.1:p.Met492CysfsTer5
XR_001738747.2:n.1532_1535delinsAAA
XR_939685.2:n.1532_1535delinsAAA
NM_000251.3:c.1470_1473delinsAAA MANE Select NP_000242.1:p.Met492CysfsTer5