Canonical Allele Identifier: CA2573134694
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs2104026576

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47410217_47410218insA , CM000664.2:g.47410217_47410218insA GRCh38
NC_000002.11:g.47637356_47637357insA , CM000664.1:g.47637356_47637357insA GRCh37
NC_000002.10:g.47490860_47490861insA NCBI36
NG_007110.2:g.12094_12095insA , LRG_218:g.12094_12095insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.490_491insA ENSP00000495641.2:p.Gly164GlufsTer14
ENST00000233146.7:c.490_491insA MANE Select ENSP00000233146.2:p.Gly164GlufsTer14
ENST00000543555.6:c.292_293insA ENSP00000442697.1:p.Gly98GlufsTer14
ENST00000644092.1:c.490_491insA ENSP00000496351.1:p.Gly164GlufsTer14
ENST00000645339.1:c.490_491insA ENSP00000496441.1:p.Gly164GlufsTer14
ENST00000645506.1:c.490_491insA ENSP00000495455.1:p.Gly164GlufsTer14
ENST00000646415.1:c.490_491insA ENSP00000495543.1:p.Gly164GlufsTer14
ENST00000233146.6:c.490_491insA ENSP00000233146.2:p.Gly164GlufsTer14
ENST00000406134.5:c.490_491insA ENSP00000384199.1:p.Gly164GlufsTer14
ENST00000454849.5:c.292_293insA ENSP00000411482.1:p.Gly98GlufsTer14
ENST00000543555.5:c.292_293insA ENSP00000442697.1:p.Gly98GlufsTer14
ENST00000610696.4:c.490_491insA ENSP00000483159.1:p.Gly164GlufsTer14
ENST00000613514.4:c.490_491insA ENSP00000484137.1:p.Gly164GlufsTer14
ENST00000617333.3:c.490_491insA ENSP00000482468.1:p.Gly164GlufsTer14
ENST00000617938.4:c.490_491insA ENSP00000481158.1:p.Gly164GlufsTer14
ENST00000621359.2:c.490_491insA ENSP00000481416.1:p.Gly164GlufsTer14
NM_000251.2:c.490_491insA , LRG_218t1:c.490_491insA NP_000242.1:p.Gly164GlufsTer14
NM_001258281.1:c.292_293insA NP_001245210.1:p.Gly98GlufsTer14
XM_005264332.2:c.490_491insA XP_005264389.2:p.Gly164GlufsTer14
XM_011532867.1:c.490_491insA XP_011531169.1:p.Gly164GlufsTer14
XR_939685.1:n.562_563insA
XM_005264332.4:c.490_491insA XP_005264389.2:p.Gly164GlufsTer14
XM_011532867.2:c.490_491insA XP_011531169.1:p.Gly164GlufsTer14
XR_001738747.2:n.552_553insA
XR_939685.2:n.552_553insA
NM_000251.3:c.490_491insA MANE Select NP_000242.1:p.Gly164GlufsTer14