Canonical Allele Identifier: CA645514873
Gene: MSH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475105_47475106insT , CM000664.2:g.47475105_47475106insT GRCh38
NC_000002.11:g.47702244_47702245insT , CM000664.1:g.47702244_47702245insT GRCh37
NC_000002.10:g.47555748_47555749insT NCBI36
NG_007110.2:g.76982_76983insT , LRG_218:g.76982_76983insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1840_1841insT ENSP00000495641.2:p.Gly614ValfsTer30
ENST00000233146.7:c.1840_1841insT MANE Select ENSP00000233146.2:p.Gly614ValfsTer30
ENST00000543555.6:c.1642_1643insT ENSP00000442697.1:p.Gly548ValfsTer30
ENST00000644092.1:c.*140_*141insT ENSP00000496351.1:n.*140_*141insT
ENST00000645339.1:c.1840_1841insT ENSP00000496441.1:p.Gly614ValfsTer30
ENST00000645506.1:c.1840_1841insT ENSP00000495455.1:p.Gly614ValfsTer30
ENST00000646415.1:c.1840_1841insT ENSP00000495543.1:p.Gly614ValfsTer30
ENST00000233146.6:c.1840_1841insT ENSP00000233146.2:p.Gly614ValfsTer30
ENST00000406134.5:c.1840_1841insT ENSP00000384199.1:p.Gly614ValfsTer30
ENST00000543555.5:c.1642_1643insT ENSP00000442697.1:p.Gly548ValfsTer30
ENST00000610696.4:c.*236_*237insT ENSP00000483159.1:n.*236_*237insT
ENST00000613514.4:c.*380_*381insT ENSP00000484137.1:n.*380_*381insT
ENST00000617333.3:c.*606_*607insT ENSP00000482468.1:n.*606_*607insT
ENST00000617938.4:c.*812_*813insT ENSP00000481158.1:n.*812_*813insT
ENST00000621359.2:c.1840_1841insT ENSP00000481416.1:p.Gly614ValfsTer30
NM_000251.2:c.1840_1841insT , LRG_218t1:c.1840_1841insT NP_000242.1:p.Gly614ValfsTer30
NM_001258281.1:c.1642_1643insT NP_001245210.1:p.Gly548ValfsTer30
XM_005264332.2:c.1840_1841insT XP_005264389.2:p.Gly614ValfsTer30
XM_011532867.1:c.1840_1841insT XP_011531169.1:p.Gly614ValfsTer30
XR_939685.1:n.1912_1913insT
XM_005264332.4:c.1840_1841insT XP_005264389.2:p.Gly614ValfsTer30
XM_011532867.2:c.1840_1841insT XP_011531169.1:p.Gly614ValfsTer30
XR_001738747.2:n.1902_1903insT
XR_939685.2:n.1902_1903insT
NM_000251.3:c.1840_1841insT MANE Select NP_000242.1:p.Gly614ValfsTer30