Canonical Allele Identifier: CA020400

Gene: MSH2

Linked Data

• ClinVar Variation Id: 188073
• ClinVar RCV Id: RCV000167895 ; RCV001390931
• dbSNP Id: rs786204050
• MyVariant Identifiers: chr2:g.47705481del (hg19) ; chr2:g.47478342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478344del , CM000664.2:g.47478344del	GRCh38
NC_000002.11:g.47705483del , CM000664.1:g.47705483del	GRCh37
NC_000002.10:g.47558987del	NCBI36
NG_007110.2:g.80221del , LRG_218:g.80221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2283del	ENSP00000495641.2:p.Leu762Ter
ENST00000233146.7:c.2283del MANE Select	ENSP00000233146.2:p.Leu762Ter
ENST00000543555.6:c.2085del	ENSP00000442697.1:p.Leu696Ter
ENST00000644092.1:c.*583del	ENSP00000496351.1:n.*583del
ENST00000644900.1:c.136del
ENST00000645339.1:c.2283del	ENSP00000496441.1:p.Leu762Ter
ENST00000645506.1:c.2283del	ENSP00000495455.1:p.Leu762Ter
ENST00000646415.1:c.2283del	ENSP00000495543.1:p.Leu762Ter
ENST00000233146.6:c.2283del	ENSP00000233146.2:p.Leu762Ter
ENST00000406134.5:c.2283del	ENSP00000384199.1:p.Leu762Ter
ENST00000543555.5:c.2085del	ENSP00000442697.1:p.Leu696Ter
ENST00000610696.4:c.*679del	ENSP00000483159.1:n.*679del
ENST00000613514.4:c.*823del	ENSP00000484137.1:n.*823del
ENST00000617333.3:c.*1049del	ENSP00000482468.1:n.*1049del
ENST00000617938.4:c.*1255del	ENSP00000481158.1:n.*1255del
ENST00000621359.2:c.2283del	ENSP00000481416.1:p.Leu762Ter
NM_000251.2:c.2283del , LRG_218t1:c.2283del	NP_000242.1:p.Leu762Ter
NM_001258281.1:c.2085del	NP_001245210.1:p.Leu696Ter
XM_005264332.2:c.2283del	XP_005264389.2:p.Leu762Ter
XM_011532867.1:c.2283del	XP_011531169.1:p.Leu762Ter
XR_939685.1:n.2355del
XM_005264332.4:c.2283del	XP_005264389.2:p.Leu762Ter
XM_011532867.2:c.2283del	XP_011531169.1:p.Leu762Ter
XR_001738747.2:n.2345del
XR_939685.2:n.2345del
NM_000251.3:c.2283del MANE Select	NP_000242.1:p.Leu762Ter