Canonical Allele Identifier: CA645369220

Gene: MSH2

Linked Data

• ClinVar Variation Id: 428521
• ClinVar RCV Id: RCV000491306
• dbSNP Id: rs1114167856
• MyVariant Identifiers: chr2:g.47702247_47702248del (hg19) ; chr2:g.47475108_47475109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475108_47475109del , CM000664.2:g.47475108_47475109del	GRCh38
NC_000002.11:g.47702247_47702248del , CM000664.1:g.47702247_47702248del	GRCh37
NC_000002.10:g.47555751_47555752del	NCBI36
NG_007110.2:g.76985_76986del , LRG_218:g.76985_76986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1843_1844del	ENSP00000495641.2:p.Ala615ThrfsTer28
ENST00000233146.7:c.1843_1844del MANE Select	ENSP00000233146.2:p.Ala615ThrfsTer28
ENST00000543555.6:c.1645_1646del	ENSP00000442697.1:p.Ala549ThrfsTer28
ENST00000644092.1:c.*143_*144del	ENSP00000496351.1:n.*143_*144del
ENST00000645339.1:c.1843_1844del	ENSP00000496441.1:p.Ala615ThrfsTer28
ENST00000645506.1:c.1843_1844del	ENSP00000495455.1:p.Ala615ThrfsTer28
ENST00000646415.1:c.1843_1844del	ENSP00000495543.1:p.Ala615ThrfsTer28
ENST00000233146.6:c.1843_1844del	ENSP00000233146.2:p.Ala615ThrfsTer28
ENST00000406134.5:c.1843_1844del	ENSP00000384199.1:p.Ala615ThrfsTer28
ENST00000543555.5:c.1645_1646del	ENSP00000442697.1:p.Ala549ThrfsTer28
ENST00000610696.4:c.*239_*240del	ENSP00000483159.1:n.*239_*240del
ENST00000613514.4:c.*383_*384del	ENSP00000484137.1:n.*383_*384del
ENST00000617333.3:c.*609_*610del	ENSP00000482468.1:n.*609_*610del
ENST00000617938.4:c.*815_*816del	ENSP00000481158.1:n.*815_*816del
ENST00000621359.2:c.1843_1844del	ENSP00000481416.1:p.Ala615ThrfsTer28
NM_000251.2:c.1843_1844del , LRG_218t1:c.1843_1844del	NP_000242.1:p.Ala615ThrfsTer28
NM_001258281.1:c.1645_1646del	NP_001245210.1:p.Ala549ThrfsTer28
XM_005264332.2:c.1843_1844del	XP_005264389.2:p.Ala615ThrfsTer28
XM_011532867.1:c.1843_1844del	XP_011531169.1:p.Ala615ThrfsTer28
XR_939685.1:n.1915_1916del
XM_005264332.4:c.1843_1844del	XP_005264389.2:p.Ala615ThrfsTer28
XM_011532867.2:c.1843_1844del	XP_011531169.1:p.Ala615ThrfsTer28
XR_001738747.2:n.1905_1906del
XR_939685.2:n.1905_1906del
NM_000251.3:c.1843_1844del MANE Select	NP_000242.1:p.Ala615ThrfsTer28