Canonical Allele Identifier: CA2495867271

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47466694_47466695delinsGT , CM000664.2:g.47466694_47466695delinsGT	GRCh38
NC_000002.11:g.47693833_47693834delinsGT , CM000664.1:g.47693833_47693834delinsGT	GRCh37
NC_000002.10:g.47547337_47547338delinsGT	NCBI36
NG_007110.2:g.68571_68572delinsGT , LRG_218:g.68571_68572delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1547_1548delinsGT	ENSP00000495641.2:p.Ser516=
ENST00000233146.7:c.1547_1548delinsGT MANE Select	ENSP00000233146.2:p.Ser516=
ENST00000543555.6:c.1349_1350delinsGT	ENSP00000442697.1:p.Ser450=
ENST00000644092.1:c.1547_1548delinsGT	ENSP00000496351.1:p.Ser516=
ENST00000645339.1:c.1547_1548delinsGT	ENSP00000496441.1:p.Ser516=
ENST00000645506.1:c.1547_1548delinsGT	ENSP00000495455.1:p.Ser516=
ENST00000646415.1:c.1547_1548delinsGT	ENSP00000495543.1:p.Ser516=
ENST00000233146.6:c.1547_1548delinsGT	ENSP00000233146.2:p.Ser516=
ENST00000406134.5:c.1547_1548delinsGT	ENSP00000384199.1:p.Ser516=
ENST00000543555.5:c.1349_1350delinsGT	ENSP00000442697.1:p.Ser450=
ENST00000610696.4:c.1547_1548delinsGT	ENSP00000483159.1:p.Ser516=
ENST00000613514.4:c.*87_*88delinsGT	ENSP00000484137.1:n.*87_*88delinsGT
ENST00000617333.3:c.*313_*314delinsGT	ENSP00000482468.1:n.*313_*314delinsGT
ENST00000617938.4:c.*519_*520delinsGT	ENSP00000481158.1:n.*519_*520delinsGT
ENST00000621359.2:c.1547_1548delinsGT	ENSP00000481416.1:p.Ser516=
NM_000251.2:c.1547_1548delinsGT , LRG_218t1:c.1547_1548delinsGT	NP_000242.1:p.Ser516=
NM_001258281.1:c.1349_1350delinsGT	NP_001245210.1:p.Ser450=
XM_005264332.2:c.1547_1548delinsGT	XP_005264389.2:p.Ser516=
XM_011532867.1:c.1547_1548delinsGT	XP_011531169.1:p.Ser516=
XR_939685.1:n.1619_1620delinsGT
XM_005264332.4:c.1547_1548delinsGT	XP_005264389.2:p.Ser516=
XM_011532867.2:c.1547_1548delinsGT	XP_011531169.1:p.Ser516=
XR_001738747.2:n.1609_1610delinsGT
XR_939685.2:n.1609_1610delinsGT
NM_000251.3:c.1547_1548delinsGT MANE Select	NP_000242.1:p.Ser516=