Canonical Allele Identifier: CA2495833818
Community Standard Title: NM_000251.3(MSH2):c.807_811delinsACTGT (p.Ser269=)
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47414283_47414287delinsACTGT , CM000664.2:g.47414283_47414287delinsACTGT GRCh38
NC_000002.11:g.47641422_47641426delinsACTGT , CM000664.1:g.47641422_47641426delinsACTGT GRCh37
NC_000002.10:g.47494926_47494930delinsACTGT NCBI36
NG_007110.2:g.16160_16164delinsACTGT , LRG_218:g.16160_16164delinsACTGT

Transcript Alleles

HGVS Amino-acid Change
NM_000251.3:c.807_811delinsACTGT MANE Select NP_000242.1:p.Ser269=
ENST00000233146.7:c.807_811delinsACTGT MANE Select ENSP00000233146.2:p.Ser269=
NM_000251.2:c.807_811delinsACTGT , LRG_218t1:c.807_811delinsACTGT NP_000242.1:p.Ser269=
NM_001258281.1:c.609_613delinsACTGT NP_001245210.1:p.Ser203=
ENST00000233146.6:c.807_811delinsACTGT ENSP00000233146.2:p.Ser269=
ENST00000406134.5:c.807_811delinsACTGT ENSP00000384199.1:p.Ser269=
ENST00000543555.5:c.609_613delinsACTGT ENSP00000442697.1:p.Ser203=
ENST00000543555.6:c.609_613delinsACTGT ENSP00000442697.1:p.Ser203=
ENST00000610696.4:c.807_811delinsACTGT ENSP00000483159.1:p.Ser269=
ENST00000613514.4:c.807_811delinsACTGT ENSP00000484137.1:p.Ser269=
ENST00000617333.3:c.807_811delinsACTGT ENSP00000482468.1:p.Ser269=
ENST00000617938.4:c.807_811delinsACTGT ENSP00000481158.1:p.Ser269=
ENST00000621359.2:c.807_811delinsACTGT ENSP00000481416.1:p.Ser269=
ENST00000644092.1:c.807_811delinsACTGT ENSP00000496351.1:p.Ser269=
ENST00000644900.2:c.807_811delinsACTGT ENSP00000495641.2:p.Ser269=
ENST00000645339.1:c.807_811delinsACTGT ENSP00000496441.1:p.Ser269=
ENST00000645506.1:c.807_811delinsACTGT ENSP00000495455.1:p.Ser269=
ENST00000646415.1:c.807_811delinsACTGT ENSP00000495543.1:p.Ser269=
XM_005264332.2:c.807_811delinsACTGT XP_005264389.2:p.Ser269=
XM_005264332.4:c.807_811delinsACTGT XP_005264389.2:p.Ser269=
XM_011532867.1:c.807_811delinsACTGT XP_011531169.1:p.Ser269=
XM_011532867.2:c.807_811delinsACTGT XP_011531169.1:p.Ser269=
XR_001738747.2:n.869_873delinsACTGT
XR_939685.1:n.879_883delinsACTGT
XR_939685.2:n.869_873delinsACTGT