Canonical Allele Identifier: CA020561

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90966
• ClinVar RCV Id: RCV000076468
• dbSNP Id: rs63750060
• MyVariant Identifiers: chr2:g.47705608_47705609del (hg19) ; chr2:g.47478469_47478470del (hg38)
• PubMed: PMID:11920458

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478469_47478470del , CM000664.2:g.47478469_47478470del	GRCh38
NC_000002.11:g.47705608_47705609del , CM000664.1:g.47705608_47705609del	GRCh37
NC_000002.10:g.47559112_47559113del	NCBI36
NG_007110.2:g.80346_80347del , LRG_218:g.80346_80347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2408_2409del	ENSP00000495641.2:p.Thr803SerfsTer5
ENST00000233146.7:c.2408_2409del MANE Select	ENSP00000233146.2:p.Thr803SerfsTer5
ENST00000543555.6:c.2210_2211del	ENSP00000442697.1:p.Thr737SerfsTer5
ENST00000644092.1:c.*708_*709del	ENSP00000496351.1:n.*708_*709del
ENST00000644900.1:c.261_262del
ENST00000645339.1:c.2408_2409del	ENSP00000496441.1:p.Thr803SerfsTer5
ENST00000645506.1:c.2408_2409del	ENSP00000495455.1:p.Thr803SerfsTer5
ENST00000646415.1:c.2408_2409del	ENSP00000495543.1:p.Thr803SerfsTer5
ENST00000233146.6:c.2408_2409del	ENSP00000233146.2:p.Thr803SerfsTer5
ENST00000406134.5:c.2408_2409del	ENSP00000384199.1:p.Thr803SerfsTer5
ENST00000543555.5:c.2210_2211del	ENSP00000442697.1:p.Thr737SerfsTer5
ENST00000610696.4:c.*804_*805del	ENSP00000483159.1:n.*804_*805del
ENST00000613514.4:c.*948_*949del	ENSP00000484137.1:n.*948_*949del
ENST00000617333.3:c.*1174_*1175del	ENSP00000482468.1:n.*1174_*1175del
ENST00000617938.4:c.*1380_*1381del	ENSP00000481158.1:n.*1380_*1381del
ENST00000621359.2:c.2407_2408del	ENSP00000481416.1:p.Gln803AlafsTer?
NM_000251.2:c.2408_2409del , LRG_218t1:c.2408_2409del	NP_000242.1:p.Thr803SerfsTer5
NM_001258281.1:c.2210_2211del	NP_001245210.1:p.Thr737SerfsTer5
XM_005264332.2:c.2408_2409del	XP_005264389.2:p.Thr803SerfsTer5
XM_011532867.1:c.2408_2409del	XP_011531169.1:p.Thr803SerfsTer5
XR_939685.1:n.2480_2481del
XM_005264332.4:c.2408_2409del	XP_005264389.2:p.Thr803SerfsTer5
XM_011532867.2:c.2408_2409del	XP_011531169.1:p.Thr803SerfsTer5
XR_001738747.2:n.2470_2471del
XR_939685.2:n.2470_2471del
NM_000251.3:c.2408_2409del MANE Select	NP_000242.1:p.Thr803SerfsTer5