Canonical Allele Identifier: CA020672

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90992
• ClinVar RCV Id: RCV000076494
• dbSNP Id: rs587779147
• MyVariant Identifiers: chr2:g.47707897del (hg19) ; chr2:g.47480758del (hg38)
• PubMed: PMID:12658575

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480758del , CM000664.2:g.47480758del	GRCh38
NC_000002.11:g.47707897del , CM000664.1:g.47707897del	GRCh37
NC_000002.10:g.47561401del	NCBI36
NG_007110.2:g.82635del , LRG_218:g.82635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2521del	ENSP00000495641.2:p.Ile841Ter
ENST00000233146.7:c.2521del MANE Select	ENSP00000233146.2:p.Ile841Ter
ENST00000543555.6:c.2323del	ENSP00000442697.1:p.Ile775Ter
ENST00000644092.1:c.*821del	ENSP00000496351.1:n.*821del
ENST00000644900.1:c.374del
ENST00000645339.1:c.2521del	ENSP00000496441.1:p.Ile841Ter
ENST00000645506.1:c.2521del	ENSP00000495455.1:p.Ile841Ter
ENST00000646415.1:c.2521del	ENSP00000495543.1:p.Ile841Ter
ENST00000233146.6:c.2521del	ENSP00000233146.2:p.Ile841Ter
ENST00000406134.5:c.2521del	ENSP00000384199.1:p.Ile841Ter
ENST00000543555.5:c.2323del	ENSP00000442697.1:p.Ile775Ter
ENST00000610696.4:c.*917del	ENSP00000483159.1:n.*917del
ENST00000613514.4:c.*1061del	ENSP00000484137.1:n.*1061del
ENST00000617333.3:c.*1287del	ENSP00000482468.1:n.*1287del
ENST00000617938.4:c.*1493del	ENSP00000481158.1:n.*1493del
ENST00000621359.2:c.*87del	ENSP00000481416.1:n.*87del
NM_000251.2:c.2521del , LRG_218t1:c.2521del	NP_000242.1:p.Ile841Ter
NM_001258281.1:c.2323del	NP_001245210.1:p.Ile775Ter
XM_005264332.2:c.2521del	XP_005264389.2:p.Ile841Ter
XM_011532867.1:c.2521del	XP_011531169.1:p.Ile841Ter
XR_939685.1:n.2593del
XM_005264332.4:c.2521del	XP_005264389.2:p.Ile841Ter
XM_011532867.2:c.2521del	XP_011531169.1:p.Ile841Ter
XR_001738747.2:n.2583del
XR_939685.2:n.2583del
NM_000251.3:c.2521del MANE Select	NP_000242.1:p.Ile841Ter