Canonical Allele Identifier: CA46712414

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1241563
• ClinVar RCV Id: RCV001645308
• dbSNP Id: rs201792963
• gnomAD v2: 2-47709796-T-TA
• gnomAD v3: 2-47482657-T-TA
• gnomAD v4: 2-47482657-T-TA
• COSMIC: COSN20080699
• MyVariant Identifiers: chr2:g.47709799_47709800insA (hg19) ; chr2:g.47709796_47709797insA (hg19) ; chr2:g.47482660_47482661insA (hg38) ; chr2:g.47482657_47482658insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482667dup , CM000664.2:g.47482667dup	GRCh38
NC_000002.11:g.47709806dup , CM000664.1:g.47709806dup	GRCh37
NC_000002.10:g.47563310dup	NCBI36
NG_007110.2:g.84544dup , LRG_218:g.84544dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+1796dup	ENSP00000495641.2:n.2634+1796dup
ENST00000233146.7:c.2635-112dup MANE Select	ENSP00000233146.2:n.2635-112dup
ENST00000543555.6:c.2437-112dup	ENSP00000442697.1:n.2437-112dup
ENST00000644092.1:c.*934+1796dup	ENSP00000496351.1:n.*934+1796dup
ENST00000644900.1:c.487+1796dup
ENST00000645339.1:c.2634+1796dup	ENSP00000496441.1:n.2634+1796dup
ENST00000645506.1:c.2634+1796dup	ENSP00000495455.1:n.2634+1796dup
ENST00000646415.1:c.2634+1796dup	ENSP00000495543.1:n.2634+1796dup
ENST00000233146.6:c.2635-112dup	ENSP00000233146.2:n.2635-112dup
ENST00000406134.5:c.2634+1796dup	ENSP00000384199.1:n.2634+1796dup
ENST00000461394.5:n.75+1796dup
ENST00000543555.5:c.2437-112dup	ENSP00000442697.1:n.2437-112dup
ENST00000610696.4:c.*1031-112dup	ENSP00000483159.1:n.*1031-112dup
ENST00000613514.4:c.*1175-112dup	ENSP00000484137.1:n.*1175-112dup
ENST00000617333.3:c.*1401-112dup	ENSP00000482468.1:n.*1401-112dup
ENST00000617938.4:c.*1607-112dup	ENSP00000481158.1:n.*1607-112dup
ENST00000621359.2:c.*201-112dup	ENSP00000481416.1:n.*201-112dup
NM_000251.2:c.2635-112dup , LRG_218t1:c.2635-112dup	NP_000242.1:n.2635-112dup
NM_001258281.1:c.2437-112dup	NP_001245210.1:n.2437-112dup
XM_005264332.2:c.2634+1796dup	XP_005264389.2:n.2634+1796dup
XM_011532867.1:c.2634+1796dup	XP_011531169.1:n.2634+1796dup
XR_939685.1:n.2706+1796dup
XM_005264332.4:c.2634+1796dup	XP_005264389.2:n.2634+1796dup
XM_011532867.2:c.2634+1796dup	XP_011531169.1:n.2634+1796dup
XR_001738747.2:n.2696+1796dup
XR_939685.2:n.2696+1796dup
NM_000251.3:c.2635-112dup MANE Select	NP_000242.1:n.2635-112dup