Canonical Allele Identifier: CA2658947001

Gene: MSH2

Linked Data

• gnomAD v4: 2-47430061-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47430061_47430062insC , CM000664.2:g.47430061_47430062insC	GRCh38
NC_000002.11:g.47657200_47657201insC , CM000664.1:g.47657200_47657201insC	GRCh37
NC_000002.10:g.47510704_47510705insC	NCBI36
NG_007110.2:g.31938_31939insC , LRG_218:g.31938_31939insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1276+120_1276+121insC	ENSP00000495641.2:n.1276+120_1276+121insC
ENST00000233146.7:c.1276+120_1276+121insC MANE Select	ENSP00000233146.2:n.1276+120_1276+121insC
ENST00000543555.6:c.1078+120_1078+121insC	ENSP00000442697.1:n.1078+120_1078+121insC
ENST00000644092.1:c.1276+120_1276+121insC	ENSP00000496351.1:n.1276+120_1276+121insC
ENST00000645339.1:c.1276+120_1276+121insC	ENSP00000496441.1:n.1276+120_1276+121insC
ENST00000645506.1:c.1276+120_1276+121insC	ENSP00000495455.1:n.1276+120_1276+121insC
ENST00000646415.1:c.1276+120_1276+121insC	ENSP00000495543.1:n.1276+120_1276+121insC
ENST00000233146.6:c.1276+120_1276+121insC	ENSP00000233146.2:n.1276+120_1276+121insC
ENST00000406134.5:c.1276+120_1276+121insC	ENSP00000384199.1:n.1276+120_1276+121insC
ENST00000543555.5:c.1078+120_1078+121insC	ENSP00000442697.1:n.1078+120_1078+121insC
ENST00000610696.4:c.1276+120_1276+121insC	ENSP00000483159.1:n.1276+120_1276+121insC
ENST00000613514.4:c.1276+120_1276+121insC	ENSP00000484137.1:n.1276+120_1276+121insC
ENST00000617333.3:c.*42+120_*42+121insC	ENSP00000482468.1:n.*42+120_*42+121insC
ENST00000617938.4:c.*248+120_*248+121insC	ENSP00000481158.1:n.*248+120_*248+121insC
ENST00000621359.2:c.1276+120_1276+121insC	ENSP00000481416.1:n.1276+120_1276+121insC
NM_000251.2:c.1276+120_1276+121insC , LRG_218t1:c.1276+120_1276+121insC	NP_000242.1:n.1276+120_1276+121insC
NM_001258281.1:c.1078+120_1078+121insC	NP_001245210.1:n.1078+120_1078+121insC
XM_005264332.2:c.1276+120_1276+121insC	XP_005264389.2:n.1276+120_1276+121insC
XM_011532867.1:c.1276+120_1276+121insC	XP_011531169.1:n.1276+120_1276+121insC
XR_939685.1:n.1348+120_1348+121insC
XM_005264332.4:c.1276+120_1276+121insC	XP_005264389.2:n.1276+120_1276+121insC
XM_011532867.2:c.1276+120_1276+121insC	XP_011531169.1:n.1276+120_1276+121insC
XR_001738747.2:n.1338+120_1338+121insC
XR_939685.2:n.1338+120_1338+121insC
NM_000251.3:c.1276+120_1276+121insC MANE Select	NP_000242.1:n.1276+120_1276+121insC