Canonical Allele Identifier: CA10584224

Gene: MSH2

Linked Data

• ClinVar Variation Id: 246167
• ClinVar RCV Id: RCV000236795 ; RCV001857813
• dbSNP Id: rs879254133
• gnomAD v4: 2-47480769-TAAACAG-T
• MyVariant Identifiers: chr2:g.47707912_47707917del (hg19) ; chr2:g.47480773_47480778del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480773_47480778del , CM000664.2:g.47480773_47480778del	GRCh38
NC_000002.11:g.47707912_47707917del , CM000664.1:g.47707912_47707917del	GRCh37
NC_000002.10:g.47561416_47561421del	NCBI36
NG_007110.2:g.82650_82655del , LRG_218:g.82650_82655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2536_2541del	ENSP00000495641.2:p.Gln846_Lys847del
ENST00000233146.7:c.2536_2541del MANE Select	ENSP00000233146.2:p.Gln846_Lys847del
ENST00000543555.6:c.2338_2343del	ENSP00000442697.1:p.Gln780_Lys781del
ENST00000644092.1:c.*836_*841del	ENSP00000496351.1:n.*836_*841del
ENST00000644900.1:c.389_394del
ENST00000645339.1:c.2536_2541del	ENSP00000496441.1:p.Gln846_Lys847del
ENST00000645506.1:c.2536_2541del	ENSP00000495455.1:p.Gln846_Lys847del
ENST00000646415.1:c.2536_2541del	ENSP00000495543.1:p.Gln846_Lys847del
ENST00000233146.6:c.2536_2541del	ENSP00000233146.2:p.Gln846_Lys847del
ENST00000406134.5:c.2536_2541del	ENSP00000384199.1:p.Gln846_Lys847del
ENST00000543555.5:c.2338_2343del	ENSP00000442697.1:p.Gln780_Lys781del
ENST00000610696.4:c.*932_*937del	ENSP00000483159.1:n.*932_*937del
ENST00000613514.4:c.*1076_*1081del	ENSP00000484137.1:n.*1076_*1081del
ENST00000617333.3:c.*1302_*1307del	ENSP00000482468.1:n.*1302_*1307del
ENST00000617938.4:c.*1508_*1513del	ENSP00000481158.1:n.*1508_*1513del
ENST00000621359.2:c.*102_*107del	ENSP00000481416.1:n.*102_*107del
NM_000251.2:c.2536_2541del , LRG_218t1:c.2536_2541del	NP_000242.1:p.Gln846_Lys847del
NM_001258281.1:c.2338_2343del	NP_001245210.1:p.Gln780_Lys781del
XM_005264332.2:c.2536_2541del	XP_005264389.2:p.Gln846_Lys847del
XM_011532867.1:c.2536_2541del	XP_011531169.1:p.Gln846_Lys847del
XR_939685.1:n.2608_2613del
XM_005264332.4:c.2536_2541del	XP_005264389.2:p.Gln846_Lys847del
XM_011532867.2:c.2536_2541del	XP_011531169.1:p.Gln846_Lys847del
XR_001738747.2:n.2598_2603del
XR_939685.2:n.2598_2603del
NM_000251.3:c.2536_2541del MANE Select	NP_000242.1:p.Gln846_Lys847del