Canonical Allele Identifier: CA2658949736

Gene: MSH2

Linked Data

• gnomAD v4: 2-47482741-T-TTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482741_47482742insTTA , CM000664.2:g.47482741_47482742insTTA	GRCh38
NC_000002.11:g.47709880_47709881insTTA , CM000664.1:g.47709880_47709881insTTA	GRCh37
NC_000002.10:g.47563384_47563385insTTA	NCBI36
NG_007110.2:g.84618_84619insTTA , LRG_218:g.84618_84619insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+1870_2634+1871insTTA	ENSP00000495641.2:n.2634+1870_2634+1871insTTA
ENST00000233146.7:c.2635-38_2635-37insTTA MANE Select	ENSP00000233146.2:n.2635-38_2635-37insTTA
ENST00000543555.6:c.2437-38_2437-37insTTA	ENSP00000442697.1:n.2437-38_2437-37insTTA
ENST00000644092.1:c.*934+1870_*934+1871insTTA	ENSP00000496351.1:n.*934+1870_*934+1871insTTA
ENST00000644900.1:c.487+1870_487+1871insTTA
ENST00000645339.1:c.2634+1870_2634+1871insTTA	ENSP00000496441.1:n.2634+1870_2634+1871insTTA
ENST00000645506.1:c.2634+1870_2634+1871insTTA	ENSP00000495455.1:n.2634+1870_2634+1871insTTA
ENST00000646415.1:c.2634+1870_2634+1871insTTA	ENSP00000495543.1:n.2634+1870_2634+1871insTTA
ENST00000233146.6:c.2635-38_2635-37insTTA	ENSP00000233146.2:n.2635-38_2635-37insTTA
ENST00000406134.5:c.2634+1870_2634+1871insTTA	ENSP00000384199.1:n.2634+1870_2634+1871insTTA
ENST00000461394.5:n.75+1870_75+1871insTTA
ENST00000543555.5:c.2437-38_2437-37insTTA	ENSP00000442697.1:n.2437-38_2437-37insTTA
ENST00000610696.4:c.*1031-38_*1031-37insTTA	ENSP00000483159.1:n.*1031-38_*1031-37insTTA
ENST00000613514.4:c.*1175-38_*1175-37insTTA	ENSP00000484137.1:n.*1175-38_*1175-37insTTA
ENST00000617333.3:c.*1401-38_*1401-37insTTA	ENSP00000482468.1:n.*1401-38_*1401-37insTTA
ENST00000617938.4:c.*1607-38_*1607-37insTTA	ENSP00000481158.1:n.*1607-38_*1607-37insTTA
ENST00000621359.2:c.*201-38_*201-37insTTA	ENSP00000481416.1:n.*201-38_*201-37insTTA
NM_000251.2:c.2635-38_2635-37insTTA , LRG_218t1:c.2635-38_2635-37insTTA	NP_000242.1:n.2635-38_2635-37insTTA
NM_001258281.1:c.2437-38_2437-37insTTA	NP_001245210.1:n.2437-38_2437-37insTTA
XM_005264332.2:c.2634+1870_2634+1871insTTA	XP_005264389.2:n.2634+1870_2634+1871insTTA
XM_011532867.1:c.2634+1870_2634+1871insTTA	XP_011531169.1:n.2634+1870_2634+1871insTTA
XR_939685.1:n.2706+1870_2706+1871insTTA
XM_005264332.4:c.2634+1870_2634+1871insTTA	XP_005264389.2:n.2634+1870_2634+1871insTTA
XM_011532867.2:c.2634+1870_2634+1871insTTA	XP_011531169.1:n.2634+1870_2634+1871insTTA
XR_001738747.2:n.2696+1870_2696+1871insTTA
XR_939685.2:n.2696+1870_2696+1871insTTA
NM_000251.3:c.2635-38_2635-37insTTA MANE Select	NP_000242.1:n.2635-38_2635-37insTTA