Canonical Allele Identifier: CA020574

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90969
• ClinVar RCV Id: RCV000076471 ; RCV002453386
• dbSNP Id: rs34986638
• gnomAD v4: 2-47478483-G-T
• MyVariant Identifiers: chr2:g.47705622G>T (hg19) ; chr2:g.47478483G>T (hg38)
• PubMed: PMID:15520370 ; PMID:16451135

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478483G>T , CM000664.2:g.47478483G>T	GRCh38
NC_000002.11:g.47705622G>T , CM000664.1:g.47705622G>T	GRCh37
NC_000002.10:g.47559126G>T	NCBI36
NG_007110.2:g.80360G>T , LRG_218:g.80360G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2422G>T	ENSP00000495641.2:p.Glu808Ter
ENST00000233146.7:c.2422G>T MANE Select	ENSP00000233146.2:p.Glu808Ter
ENST00000543555.6:c.2224G>T	ENSP00000442697.1:p.Glu742Ter
ENST00000644092.1:c.*722G>T	ENSP00000496351.1:n.*722G>T
ENST00000644900.1:c.275G>T
ENST00000645339.1:c.2422G>T	ENSP00000496441.1:p.Glu808Ter
ENST00000645506.1:c.2422G>T	ENSP00000495455.1:p.Glu808Ter
ENST00000646415.1:c.2422G>T	ENSP00000495543.1:p.Glu808Ter
ENST00000233146.6:c.2422G>T	ENSP00000233146.2:p.Glu808Ter
ENST00000406134.5:c.2422G>T	ENSP00000384199.1:p.Glu808Ter
ENST00000543555.5:c.2224G>T	ENSP00000442697.1:p.Glu742Ter
ENST00000610696.4:c.*818G>T	ENSP00000483159.1:n.*818G>T
ENST00000613514.4:c.*962G>T	ENSP00000484137.1:n.*962G>T
ENST00000617333.3:c.*1188G>T	ENSP00000482468.1:n.*1188G>T
ENST00000617938.4:c.*1394G>T	ENSP00000481158.1:n.*1394G>T
ENST00000621359.2:c.2421G>T	ENSP00000481416.1:p.Leu807=
NM_000251.2:c.2422G>T , LRG_218t1:c.2422G>T	NP_000242.1:p.Glu808Ter
NM_001258281.1:c.2224G>T	NP_001245210.1:p.Glu742Ter
XM_005264332.2:c.2422G>T	XP_005264389.2:p.Glu808Ter
XM_011532867.1:c.2422G>T	XP_011531169.1:p.Glu808Ter
XR_939685.1:n.2494G>T
XM_005264332.4:c.2422G>T	XP_005264389.2:p.Glu808Ter
XM_011532867.2:c.2422G>T	XP_011531169.1:p.Glu808Ter
XR_001738747.2:n.2484G>T
XR_939685.2:n.2484G>T
NM_000251.3:c.2422G>T MANE Select	NP_000242.1:p.Glu808Ter