Canonical Allele Identifier: CA2580067137

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1784491
• ClinVar RCV Id: RCV002417428

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476380_47476382del , CM000664.2:g.47476380_47476382del	GRCh38
NC_000002.11:g.47703519_47703521del , CM000664.1:g.47703519_47703521del	GRCh37
NC_000002.10:g.47557023_47557025del	NCBI36
NG_007110.2:g.78257_78259del , LRG_218:g.78257_78259del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2019_2021del	ENSP00000495641.2:p.Gly674del
ENST00000233146.7:c.2019_2021del MANE Select	ENSP00000233146.2:p.Gly674del
ENST00000543555.6:c.1821_1823del	ENSP00000442697.1:p.Gly608del
ENST00000644092.1:c.*319_*321del	ENSP00000496351.1:n.*319_*321del
ENST00000645339.1:c.2019_2021del	ENSP00000496441.1:p.Gly674del
ENST00000645506.1:c.2019_2021del	ENSP00000495455.1:p.Gly674del
ENST00000646415.1:c.2019_2021del	ENSP00000495543.1:p.Gly674del
ENST00000233146.6:c.2019_2021del	ENSP00000233146.2:p.Gly674del
ENST00000406134.5:c.2019_2021del	ENSP00000384199.1:p.Gly674del
ENST00000543555.5:c.1821_1823del	ENSP00000442697.1:p.Gly608del
ENST00000610696.4:c.*415_*417del	ENSP00000483159.1:n.*415_*417del
ENST00000613514.4:c.*559_*561del	ENSP00000484137.1:n.*559_*561del
ENST00000617333.3:c.*785_*787del	ENSP00000482468.1:n.*785_*787del
ENST00000617938.4:c.*991_*993del	ENSP00000481158.1:n.*991_*993del
ENST00000621359.2:c.2019_2021del	ENSP00000481416.1:p.Gly674del
NM_000251.2:c.2019_2021del , LRG_218t1:c.2019_2021del	NP_000242.1:p.Gly674del
NM_001258281.1:c.1821_1823del	NP_001245210.1:p.Gly608del
XM_005264332.2:c.2019_2021del	XP_005264389.2:p.Gly674del
XM_011532867.1:c.2019_2021del	XP_011531169.1:p.Gly674del
XR_939685.1:n.2091_2093del
XM_005264332.4:c.2019_2021del	XP_005264389.2:p.Gly674del
XM_011532867.2:c.2019_2021del	XP_011531169.1:p.Gly674del
XR_001738747.2:n.2081_2083del
XR_939685.2:n.2081_2083del
NM_000251.3:c.2019_2021del MANE Select	NP_000242.1:p.Gly674del