Canonical Allele Identifier: CA2495874518
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478332C= , CM000664.2:g.47478332C= GRCh38
NC_000002.11:g.47705471C= , CM000664.1:g.47705471C= GRCh37
NC_000002.10:g.47558975C= NCBI36
NG_007110.2:g.80209C= , LRG_218:g.80209C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2271C= ENSP00000495641.2:p.Tyr757=
ENST00000233146.7:c.2271C= MANE Select ENSP00000233146.2:p.Tyr757=
ENST00000543555.6:c.2073C= ENSP00000442697.1:p.Tyr691=
ENST00000644092.1:c.*571C= ENSP00000496351.1:n.*571C=
ENST00000644900.1:c.124C=
ENST00000645339.1:c.2271C= ENSP00000496441.1:p.Tyr757=
ENST00000645506.1:c.2271C= ENSP00000495455.1:p.Tyr757=
ENST00000646415.1:c.2271C= ENSP00000495543.1:p.Tyr757=
ENST00000233146.6:c.2271C= ENSP00000233146.2:p.Tyr757=
ENST00000406134.5:c.2271C= ENSP00000384199.1:p.Tyr757=
ENST00000543555.5:c.2073C= ENSP00000442697.1:p.Tyr691=
ENST00000610696.4:c.*667C= ENSP00000483159.1:n.*667C=
ENST00000613514.4:c.*811C= ENSP00000484137.1:n.*811C=
ENST00000617333.3:c.*1037C= ENSP00000482468.1:n.*1037C=
ENST00000617938.4:c.*1243C= ENSP00000481158.1:n.*1243C=
ENST00000621359.2:c.2271C= ENSP00000481416.1:p.Tyr757=
NM_000251.2:c.2271C= , LRG_218t1:c.2271C= NP_000242.1:p.Tyr757=
NM_001258281.1:c.2073C= NP_001245210.1:p.Tyr691=
XM_005264332.2:c.2271C= XP_005264389.2:p.Tyr757=
XM_011532867.1:c.2271C= XP_011531169.1:p.Tyr757=
XR_939685.1:n.2343C=
XM_005264332.4:c.2271C= XP_005264389.2:p.Tyr757=
XM_011532867.2:c.2271C= XP_011531169.1:p.Tyr757=
XR_001738747.2:n.2333C=
XR_939685.2:n.2333C=
NM_000251.3:c.2271C= MANE Select NP_000242.1:p.Tyr757=