Canonical Allele Identifier: CA022365
Community Standard Title: NM_000251.3(MSH2):c.817_818delinsAA (p.Val273Lys)
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47414293_47414294delinsAA , CM000664.2:g.47414293_47414294delinsAA GRCh38
NC_000002.11:g.47641432_47641433delinsAA , CM000664.1:g.47641432_47641433delinsAA GRCh37
NC_000002.10:g.47494936_47494937delinsAA NCBI36
NG_007110.2:g.16170_16171delinsAA , LRG_218:g.16170_16171delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_000251.3:c.817_818delinsAA MANE Select NP_000242.1:p.Val273Lys
ENST00000233146.7:c.817_818delinsAA MANE Select ENSP00000233146.2:p.Val273Lys
NM_000251.2:c.817_818delinsAA , LRG_218t1:c.817_818delinsAA NP_000242.1:p.Val273Lys
NM_001258281.1:c.619_620delinsAA NP_001245210.1:p.Val207Lys
ENST00000233146.6:c.817_818delinsAA ENSP00000233146.2:p.Val273Lys
ENST00000406134.5:c.817_818delinsAA ENSP00000384199.1:p.Val273Lys
ENST00000543555.5:c.619_620delinsAA ENSP00000442697.1:p.Val207Lys
ENST00000543555.6:c.619_620delinsAA ENSP00000442697.1:p.Val207Lys
ENST00000610696.4:c.817_818delinsAA ENSP00000483159.1:p.Val273Lys
ENST00000613514.4:c.817_818delinsAA ENSP00000484137.1:p.Val273Lys
ENST00000617333.3:c.817_818delinsAA ENSP00000482468.1:p.Val273Lys
ENST00000617938.4:c.817_818delinsAA ENSP00000481158.1:p.Val273Lys
ENST00000621359.2:c.817_818delinsAA ENSP00000481416.1:p.Val273Lys
ENST00000644092.1:c.817_818delinsAA ENSP00000496351.1:p.Val273Lys
ENST00000644900.2:c.817_818delinsAA ENSP00000495641.2:p.Val273Lys
ENST00000645339.1:c.817_818delinsAA ENSP00000496441.1:p.Val273Lys
ENST00000645506.1:c.817_818delinsAA ENSP00000495455.1:p.Val273Lys
ENST00000646415.1:c.817_818delinsAA ENSP00000495543.1:p.Val273Lys
XM_005264332.2:c.817_818delinsAA XP_005264389.2:p.Val273Lys
XM_005264332.4:c.817_818delinsAA XP_005264389.2:p.Val273Lys
XM_011532867.1:c.817_818delinsAA XP_011531169.1:p.Val273Lys
XM_011532867.2:c.817_818delinsAA XP_011531169.1:p.Val273Lys
XR_001738747.2:n.879_880delinsAA
XR_939685.1:n.889_890delinsAA
XR_939685.2:n.879_880delinsAA