Canonical Allele Identifier: CA46684001

Gene: MSH2

Linked Data

• dbSNP Id: rs267607936
• MyVariant Identifiers: chr2:g.47641451_47641453del (hg19) ; chr2:g.47414312_47414314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414313_47414315del , CM000664.2:g.47414313_47414315del	GRCh38
NC_000002.11:g.47641452_47641454del , CM000664.1:g.47641452_47641454del	GRCh37
NC_000002.10:g.47494956_47494958del	NCBI36
NG_007110.2:g.16190_16192del , LRG_218:g.16190_16192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.837_839del	ENSP00000495641.2:p.Leu280del
ENST00000233146.7:c.837_839del MANE Select	ENSP00000233146.2:p.Leu280del
ENST00000543555.6:c.639_641del	ENSP00000442697.1:p.Leu214del
ENST00000644092.1:c.837_839del	ENSP00000496351.1:p.Leu280del
ENST00000645339.1:c.837_839del	ENSP00000496441.1:p.Leu280del
ENST00000645506.1:c.837_839del	ENSP00000495455.1:p.Leu280del
ENST00000646415.1:c.837_839del	ENSP00000495543.1:p.Leu280del
ENST00000233146.6:c.837_839del	ENSP00000233146.2:p.Leu280del
ENST00000406134.5:c.837_839del	ENSP00000384199.1:p.Leu280del
ENST00000543555.5:c.639_641del	ENSP00000442697.1:p.Leu214del
ENST00000610696.4:c.837_839del	ENSP00000483159.1:p.Leu280del
ENST00000613514.4:c.837_839del	ENSP00000484137.1:p.Leu280del
ENST00000617333.3:c.837_839del	ENSP00000482468.1:p.Leu280del
ENST00000617938.4:c.837_839del	ENSP00000481158.1:p.Leu280del
ENST00000621359.2:c.837_839del	ENSP00000481416.1:p.Leu280del
NM_000251.2:c.837_839del , LRG_218t1:c.837_839del	NP_000242.1:p.Leu280del
NM_001258281.1:c.639_641del	NP_001245210.1:p.Leu214del
XM_005264332.2:c.837_839del	XP_005264389.2:p.Leu280del
XM_011532867.1:c.837_839del	XP_011531169.1:p.Leu280del
XR_939685.1:n.909_911del
XM_005264332.4:c.837_839del	XP_005264389.2:p.Leu280del
XM_011532867.2:c.837_839del	XP_011531169.1:p.Leu280del
XR_001738747.2:n.899_901del
XR_939685.2:n.899_901del
NM_000251.3:c.837_839del MANE Select	NP_000242.1:p.Leu280del