Canonical Allele Identifier: CA2749803514

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478480_47478481insACCAAACACACCCAACACA , CM000664.2:g.47478480_47478481insACCAAACACACCCAACACA	GRCh38
NC_000002.11:g.47705619_47705620insACCAAACACACCCAACACA , CM000664.1:g.47705619_47705620insACCAAACACACCCAACACA	GRCh37
NC_000002.10:g.47559123_47559124insACCAAACACACCCAACACA	NCBI36
NG_007110.2:g.80357_80358insACCAAACACACCCAACACA , LRG_218:g.80357_80358insACCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2419_2420insACCAAACACACCCAACACA	ENSP00000495641.2:p.Thr807AsnfsTer8
ENST00000233146.7:c.2419_2420insACCAAACACACCCAACACA MANE Select	ENSP00000233146.2:p.Thr807AsnfsTer8
ENST00000543555.6:c.2221_2222insACCAAACACACCCAACACA	ENSP00000442697.1:p.Thr741AsnfsTer8
ENST00000644092.1:c.*719_*720insACCAAACACACCCAACACA	ENSP00000496351.1:n.*719_*720insACCAAACACACCCAACACA
ENST00000644900.1:c.272_273insACCAAACACACCCAACACA
ENST00000645339.1:c.2419_2420insACCAAACACACCCAACACA	ENSP00000496441.1:p.Thr807AsnfsTer8
ENST00000645506.1:c.2419_2420insACCAAACACACCCAACACA	ENSP00000495455.1:p.Thr807AsnfsTer8
ENST00000646415.1:c.2419_2420insACCAAACACACCCAACACA	ENSP00000495543.1:p.Thr807AsnfsTer8
ENST00000233146.6:c.2419_2420insACCAAACACACCCAACACA	ENSP00000233146.2:p.Thr807AsnfsTer8
ENST00000406134.5:c.2419_2420insACCAAACACACCCAACACA	ENSP00000384199.1:p.Thr807AsnfsTer8
ENST00000543555.5:c.2221_2222insACCAAACACACCCAACACA	ENSP00000442697.1:p.Thr741AsnfsTer8
ENST00000610696.4:c.*815_*816insACCAAACACACCCAACACA	ENSP00000483159.1:n.*815_*816insACCAAACACACCCAACACA
ENST00000613514.4:c.*959_*960insACCAAACACACCCAACACA	ENSP00000484137.1:n.*959_*960insACCAAACACACCCAACACA
ENST00000617333.3:c.*1185_*1186insACCAAACACACCCAACACA	ENSP00000482468.1:n.*1185_*1186insACCAAACACACCCAACACA
ENST00000617938.4:c.*1391_*1392insACCAAACACACCCAACACA	ENSP00000481158.1:n.*1391_*1392insACCAAACACACCCAACACA
ENST00000621359.2:c.2418_2419insACCAAACACACCCAACACA	ENSP00000481416.1:p.Leu807ThrfsTer?
NM_000251.2:c.2419_2420insACCAAACACACCCAACACA , LRG_218t1:c.2419_2420insACCAAACACACCCAACACA	NP_000242.1:p.Thr807AsnfsTer8
NM_001258281.1:c.2221_2222insACCAAACACACCCAACACA	NP_001245210.1:p.Thr741AsnfsTer8
XM_005264332.2:c.2419_2420insACCAAACACACCCAACACA	XP_005264389.2:p.Thr807AsnfsTer8
XM_011532867.1:c.2419_2420insACCAAACACACCCAACACA	XP_011531169.1:p.Thr807AsnfsTer8
XR_939685.1:n.2491_2492insACCAAACACACCCAACACA
XM_005264332.4:c.2419_2420insACCAAACACACCCAACACA	XP_005264389.2:p.Thr807AsnfsTer8
XM_011532867.2:c.2419_2420insACCAAACACACCCAACACA	XP_011531169.1:p.Thr807AsnfsTer8
XR_001738747.2:n.2481_2482insACCAAACACACCCAACACA
XR_939685.2:n.2481_2482insACCAAACACACCCAACACA
NM_000251.3:c.2419_2420insACCAAACACACCCAACACA MANE Select	NP_000242.1:p.Thr807AsnfsTer8