Canonical Allele Identifier: CA2658949583

Gene: MSH2

Linked Data

• gnomAD v4: 2-47480935-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480936del , CM000664.2:g.47480936del	GRCh38
NC_000002.11:g.47708075del , CM000664.1:g.47708075del	GRCh37
NC_000002.10:g.47561579del	NCBI36
NG_007110.2:g.82813del , LRG_218:g.82813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+65del	ENSP00000495641.2:n.2634+65del
ENST00000233146.7:c.2634+65del MANE Select	ENSP00000233146.2:n.2634+65del
ENST00000543555.6:c.2436+65del	ENSP00000442697.1:n.2436+65del
ENST00000644092.1:c.*934+65del	ENSP00000496351.1:n.*934+65del
ENST00000644900.1:c.487+65del
ENST00000645339.1:c.2634+65del	ENSP00000496441.1:n.2634+65del
ENST00000645506.1:c.2634+65del	ENSP00000495455.1:n.2634+65del
ENST00000646415.1:c.2634+65del	ENSP00000495543.1:n.2634+65del
ENST00000233146.6:c.2634+65del	ENSP00000233146.2:n.2634+65del
ENST00000406134.5:c.2634+65del	ENSP00000384199.1:n.2634+65del
ENST00000461394.5:n.75+65del
ENST00000543555.5:c.2436+65del	ENSP00000442697.1:n.2436+65del
ENST00000610696.4:c.*1030+65del	ENSP00000483159.1:n.*1030+65del
ENST00000613514.4:c.*1174+65del	ENSP00000484137.1:n.*1174+65del
ENST00000617333.3:c.*1400+65del	ENSP00000482468.1:n.*1400+65del
ENST00000617938.4:c.*1606+65del	ENSP00000481158.1:n.*1606+65del
ENST00000621359.2:c.*200+65del	ENSP00000481416.1:n.*200+65del
NM_000251.2:c.2634+65del , LRG_218t1:c.2634+65del	NP_000242.1:n.2634+65del
NM_001258281.1:c.2436+65del	NP_001245210.1:n.2436+65del
XM_005264332.2:c.2634+65del	XP_005264389.2:n.2634+65del
XM_011532867.1:c.2634+65del	XP_011531169.1:n.2634+65del
XR_939685.1:n.2706+65del
XM_005264332.4:c.2634+65del	XP_005264389.2:n.2634+65del
XM_011532867.2:c.2634+65del	XP_011531169.1:n.2634+65del
XR_001738747.2:n.2696+65del
XR_939685.2:n.2696+65del
NM_000251.3:c.2634+65del MANE Select	NP_000242.1:n.2634+65del