Canonical Allele Identifier: CA2658947293

Gene: MSH2

Linked Data

• gnomAD v4: 2-47463161-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463162del , CM000664.2:g.47463162del	GRCh38
NC_000002.11:g.47690301del , CM000664.1:g.47690301del	GRCh37
NC_000002.10:g.47543805del	NCBI36
NG_007110.2:g.65039del , LRG_218:g.65039del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1510+8del	ENSP00000495641.2:n.1510+8del
ENST00000233146.7:c.1510+8del MANE Select	ENSP00000233146.2:n.1510+8del
ENST00000543555.6:c.1312+8del	ENSP00000442697.1:n.1312+8del
ENST00000644092.1:c.1510+8del	ENSP00000496351.1:n.1510+8del
ENST00000645339.1:c.1510+8del	ENSP00000496441.1:n.1510+8del
ENST00000645506.1:c.1510+8del	ENSP00000495455.1:n.1510+8del
ENST00000646415.1:c.1510+8del	ENSP00000495543.1:n.1510+8del
ENST00000233146.6:c.1510+8del	ENSP00000233146.2:n.1510+8del
ENST00000406134.5:c.1510+8del	ENSP00000384199.1:n.1510+8del
ENST00000543555.5:c.1312+8del	ENSP00000442697.1:n.1312+8del
ENST00000610696.4:c.1510+8del	ENSP00000483159.1:n.1510+8del
ENST00000613514.4:c.*50+8del	ENSP00000484137.1:n.*50+8del
ENST00000617333.3:c.*276+8del	ENSP00000482468.1:n.*276+8del
ENST00000617938.4:c.*482+8del	ENSP00000481158.1:n.*482+8del
ENST00000621359.2:c.1510+8del	ENSP00000481416.1:n.1510+8del
NM_000251.2:c.1510+8del , LRG_218t1:c.1510+8del	NP_000242.1:n.1510+8del
NM_001258281.1:c.1312+8del	NP_001245210.1:n.1312+8del
XM_005264332.2:c.1510+8del	XP_005264389.2:n.1510+8del
XM_011532867.1:c.1510+8del	XP_011531169.1:n.1510+8del
XR_939685.1:n.1582+8del
XM_005264332.4:c.1510+8del	XP_005264389.2:n.1510+8del
XM_011532867.2:c.1510+8del	XP_011531169.1:n.1510+8del
XR_001738747.2:n.1572+8del
XR_939685.2:n.1572+8del
NM_000251.3:c.1510+8del MANE Select	NP_000242.1:n.1510+8del