Canonical Allele Identifier: CA2695200698
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2673476
ClinVar RCV Id: RCV003450198

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475067_47475068dup , CM000664.2:g.47475067_47475068dup GRCh38
NC_000002.11:g.47702206_47702207dup , CM000664.1:g.47702206_47702207dup GRCh37
NC_000002.10:g.47555710_47555711dup NCBI36
NG_007110.2:g.76944_76945dup , LRG_218:g.76944_76945dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1802_1803dup ENSP00000495641.2:p.Leu602SerfsTer2
ENST00000233146.7:c.1802_1803dup MANE Select ENSP00000233146.2:p.Leu602SerfsTer2
ENST00000543555.6:c.1604_1605dup ENSP00000442697.1:p.Leu536SerfsTer2
ENST00000644092.1:c.*102_*103dup ENSP00000496351.1:n.*102_*103dup
ENST00000645339.1:c.1802_1803dup ENSP00000496441.1:p.Leu602SerfsTer2
ENST00000645506.1:c.1802_1803dup ENSP00000495455.1:p.Leu602SerfsTer2
ENST00000646415.1:c.1802_1803dup ENSP00000495543.1:p.Leu602SerfsTer2
ENST00000233146.6:c.1802_1803dup ENSP00000233146.2:p.Leu602SerfsTer2
ENST00000406134.5:c.1802_1803dup ENSP00000384199.1:p.Leu602SerfsTer2
ENST00000543555.5:c.1604_1605dup ENSP00000442697.1:p.Leu536SerfsTer2
ENST00000610696.4:c.*198_*199dup ENSP00000483159.1:n.*198_*199dup
ENST00000613514.4:c.*342_*343dup ENSP00000484137.1:n.*342_*343dup
ENST00000617333.3:c.*568_*569dup ENSP00000482468.1:n.*568_*569dup
ENST00000617938.4:c.*774_*775dup ENSP00000481158.1:n.*774_*775dup
ENST00000621359.2:c.1802_1803dup ENSP00000481416.1:p.Leu602SerfsTer2
NM_000251.2:c.1802_1803dup , LRG_218t1:c.1802_1803dup NP_000242.1:p.Leu602SerfsTer2
NM_001258281.1:c.1604_1605dup NP_001245210.1:p.Leu536SerfsTer2
XM_005264332.2:c.1802_1803dup XP_005264389.2:p.Leu602SerfsTer2
XM_011532867.1:c.1802_1803dup XP_011531169.1:p.Leu602SerfsTer2
XR_939685.1:n.1874_1875dup
XM_005264332.4:c.1802_1803dup XP_005264389.2:p.Leu602SerfsTer2
XM_011532867.2:c.1802_1803dup XP_011531169.1:p.Leu602SerfsTer2
XR_001738747.2:n.1864_1865dup
XR_939685.2:n.1864_1865dup
NM_000251.3:c.1802_1803dup MANE Select NP_000242.1:p.Leu602SerfsTer2