Canonical Allele Identifier: CA2495833882
Community Standard Title: NM_000251.3(MSH2):c.815_816delinsCG (p.Ala272=)
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47414291_47414292delinsCG , CM000664.2:g.47414291_47414292delinsCG GRCh38
NC_000002.11:g.47641430_47641431delinsCG , CM000664.1:g.47641430_47641431delinsCG GRCh37
NC_000002.10:g.47494934_47494935delinsCG NCBI36
NG_007110.2:g.16168_16169delinsCG , LRG_218:g.16168_16169delinsCG

Transcript Alleles

HGVS Amino-acid Change
NM_000251.3:c.815_816delinsCG MANE Select NP_000242.1:p.Ala272=
ENST00000233146.7:c.815_816delinsCG MANE Select ENSP00000233146.2:p.Ala272=
NM_000251.2:c.815_816delinsCG , LRG_218t1:c.815_816delinsCG NP_000242.1:p.Ala272=
NM_001258281.1:c.617_618delinsCG NP_001245210.1:p.Ala206=
ENST00000233146.6:c.815_816delinsCG ENSP00000233146.2:p.Ala272=
ENST00000406134.5:c.815_816delinsCG ENSP00000384199.1:p.Ala272=
ENST00000543555.5:c.617_618delinsCG ENSP00000442697.1:p.Ala206=
ENST00000543555.6:c.617_618delinsCG ENSP00000442697.1:p.Ala206=
ENST00000610696.4:c.815_816delinsCG ENSP00000483159.1:p.Ala272=
ENST00000613514.4:c.815_816delinsCG ENSP00000484137.1:p.Ala272=
ENST00000617333.3:c.815_816delinsCG ENSP00000482468.1:p.Ala272=
ENST00000617938.4:c.815_816delinsCG ENSP00000481158.1:p.Ala272=
ENST00000621359.2:c.815_816delinsCG ENSP00000481416.1:p.Ala272=
ENST00000644092.1:c.815_816delinsCG ENSP00000496351.1:p.Ala272=
ENST00000644900.2:c.815_816delinsCG ENSP00000495641.2:p.Ala272=
ENST00000645339.1:c.815_816delinsCG ENSP00000496441.1:p.Ala272=
ENST00000645506.1:c.815_816delinsCG ENSP00000495455.1:p.Ala272=
ENST00000646415.1:c.815_816delinsCG ENSP00000495543.1:p.Ala272=
XM_005264332.2:c.815_816delinsCG XP_005264389.2:p.Ala272=
XM_005264332.4:c.815_816delinsCG XP_005264389.2:p.Ala272=
XM_011532867.1:c.815_816delinsCG XP_011531169.1:p.Ala272=
XM_011532867.2:c.815_816delinsCG XP_011531169.1:p.Ala272=
XR_001738747.2:n.877_878delinsCG
XR_939685.1:n.887_888delinsCG
XR_939685.2:n.877_878delinsCG