Canonical Allele Identifier: CA2580066937

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1780064
• ClinVar RCV Id: RCV002407706

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475050_47475052del , CM000664.2:g.47475050_47475052del	GRCh38
NC_000002.11:g.47702189_47702191del , CM000664.1:g.47702189_47702191del	GRCh37
NC_000002.10:g.47555693_47555695del	NCBI36
NG_007110.2:g.76927_76929del , LRG_218:g.76927_76929del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1785_1787del	ENSP00000495641.2:p.Asn596del
ENST00000233146.7:c.1785_1787del MANE Select	ENSP00000233146.2:p.Asn596del
ENST00000543555.6:c.1587_1589del	ENSP00000442697.1:p.Asn530del
ENST00000644092.1:c.*85_*87del	ENSP00000496351.1:n.*85_*87del
ENST00000645339.1:c.1785_1787del	ENSP00000496441.1:p.Asn596del
ENST00000645506.1:c.1785_1787del	ENSP00000495455.1:p.Asn596del
ENST00000646415.1:c.1785_1787del	ENSP00000495543.1:p.Asn596del
ENST00000233146.6:c.1785_1787del	ENSP00000233146.2:p.Asn596del
ENST00000406134.5:c.1785_1787del	ENSP00000384199.1:p.Asn596del
ENST00000543555.5:c.1587_1589del	ENSP00000442697.1:p.Asn530del
ENST00000610696.4:c.*181_*183del	ENSP00000483159.1:n.*181_*183del
ENST00000613514.4:c.*325_*327del	ENSP00000484137.1:n.*325_*327del
ENST00000617333.3:c.*551_*553del	ENSP00000482468.1:n.*551_*553del
ENST00000617938.4:c.*757_*759del	ENSP00000481158.1:n.*757_*759del
ENST00000621359.2:c.1785_1787del	ENSP00000481416.1:p.Asn596del
NM_000251.2:c.1785_1787del , LRG_218t1:c.1785_1787del	NP_000242.1:p.Asn596del
NM_001258281.1:c.1587_1589del	NP_001245210.1:p.Asn530del
XM_005264332.2:c.1785_1787del	XP_005264389.2:p.Asn596del
XM_011532867.1:c.1785_1787del	XP_011531169.1:p.Asn596del
XR_939685.1:n.1857_1859del
XM_005264332.4:c.1785_1787del	XP_005264389.2:p.Asn596del
XM_011532867.2:c.1785_1787del	XP_011531169.1:p.Asn596del
XR_001738747.2:n.1847_1849del
XR_939685.2:n.1847_1849del
NM_000251.3:c.1785_1787del MANE Select	NP_000242.1:p.Asn596del