Canonical Allele Identifier: CA2495874516
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478330_47478332delinsTAC , CM000664.2:g.47478330_47478332delinsTAC GRCh38
NC_000002.11:g.47705469_47705471delinsTAC , CM000664.1:g.47705469_47705471delinsTAC GRCh37
NC_000002.10:g.47558973_47558975delinsTAC NCBI36
NG_007110.2:g.80207_80209delinsTAC , LRG_218:g.80207_80209delinsTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2269_2271delinsTAC ENSP00000495641.2:p.Tyr757=
ENST00000233146.7:c.2269_2271delinsTAC MANE Select ENSP00000233146.2:p.Tyr757=
ENST00000543555.6:c.2071_2073delinsTAC ENSP00000442697.1:p.Tyr691=
ENST00000644092.1:c.*569_*571delinsTAC ENSP00000496351.1:n.*569_*571delinsTAC
ENST00000644900.1:c.122_124delinsTAC
ENST00000645339.1:c.2269_2271delinsTAC ENSP00000496441.1:p.Tyr757=
ENST00000645506.1:c.2269_2271delinsTAC ENSP00000495455.1:p.Tyr757=
ENST00000646415.1:c.2269_2271delinsTAC ENSP00000495543.1:p.Tyr757=
ENST00000233146.6:c.2269_2271delinsTAC ENSP00000233146.2:p.Tyr757=
ENST00000406134.5:c.2269_2271delinsTAC ENSP00000384199.1:p.Tyr757=
ENST00000543555.5:c.2071_2073delinsTAC ENSP00000442697.1:p.Tyr691=
ENST00000610696.4:c.*665_*667delinsTAC ENSP00000483159.1:n.*665_*667delinsTAC
ENST00000613514.4:c.*809_*811delinsTAC ENSP00000484137.1:n.*809_*811delinsTAC
ENST00000617333.3:c.*1035_*1037delinsTAC ENSP00000482468.1:n.*1035_*1037delinsTAC
ENST00000617938.4:c.*1241_*1243delinsTAC ENSP00000481158.1:n.*1241_*1243delinsTAC
ENST00000621359.2:c.2269_2271delinsTAC ENSP00000481416.1:p.Tyr757=
NM_000251.2:c.2269_2271delinsTAC , LRG_218t1:c.2269_2271delinsTAC NP_000242.1:p.Tyr757=
NM_001258281.1:c.2071_2073delinsTAC NP_001245210.1:p.Tyr691=
XM_005264332.2:c.2269_2271delinsTAC XP_005264389.2:p.Tyr757=
XM_011532867.1:c.2269_2271delinsTAC XP_011531169.1:p.Tyr757=
XR_939685.1:n.2341_2343delinsTAC
XM_005264332.4:c.2269_2271delinsTAC XP_005264389.2:p.Tyr757=
XM_011532867.2:c.2269_2271delinsTAC XP_011531169.1:p.Tyr757=
XR_001738747.2:n.2331_2333delinsTAC
XR_939685.2:n.2331_2333delinsTAC
NM_000251.3:c.2269_2271delinsTAC MANE Select NP_000242.1:p.Tyr757=