Canonical Allele Identifier: CA331444

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90870
• ClinVar RCV Id: RCV000076372
• dbSNP Id: rs1553369051
• MyVariant Identifiers: chr2:g.47703548_47703611dup (hg19) ; chr2:g.47703548_47703611dup64 (hg19) ; chr2:g.47476409_47476472dup (hg38) ; chr2:g.47476409_47476472dup64 (hg38)
• PubMed: PMID:11112663

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476409_47476472dup , CM000664.2:g.47476409_47476472dup	GRCh38
NC_000002.11:g.47703548_47703611dup , CM000664.1:g.47703548_47703611dup	GRCh37
NC_000002.10:g.47557052_47557115dup	NCBI36
NG_007110.2:g.78286_78349dup , LRG_218:g.78286_78349dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2048_2111dup	ENSP00000495641.2:p.Ile704MetfsTer16
ENST00000233146.7:c.2048_2111dup MANE Select	ENSP00000233146.2:p.Ile704MetfsTer16
ENST00000543555.6:c.1850_1913dup	ENSP00000442697.1:p.Ile638MetfsTer16
ENST00000644092.1:c.*348_*411dup	ENSP00000496351.1:n.*348_*411dup
ENST00000645339.1:c.2048_2111dup	ENSP00000496441.1:p.Ile704MetfsTer16
ENST00000645506.1:c.2048_2111dup	ENSP00000495455.1:p.Ile704MetfsTer16
ENST00000646415.1:c.2048_2111dup	ENSP00000495543.1:p.Ile704MetfsTer16
ENST00000233146.6:c.2048_2111dup	ENSP00000233146.2:p.Ile704MetfsTer16
ENST00000406134.5:c.2048_2111dup	ENSP00000384199.1:p.Ile704MetfsTer16
ENST00000543555.5:c.1850_1913dup	ENSP00000442697.1:p.Ile638MetfsTer16
ENST00000610696.4:c.*444_*507dup	ENSP00000483159.1:n.*444_*507dup
ENST00000613514.4:c.*588_*651dup	ENSP00000484137.1:n.*588_*651dup
ENST00000617333.3:c.*814_*877dup	ENSP00000482468.1:n.*814_*877dup
ENST00000617938.4:c.*1020_*1083dup	ENSP00000481158.1:n.*1020_*1083dup
ENST00000621359.2:c.2048_2111dup	ENSP00000481416.1:p.Ile704MetfsTer16
NM_000251.2:c.2048_2111dup , LRG_218t1:c.2048_2111dup	NP_000242.1:p.Ile704MetfsTer16
NM_001258281.1:c.1850_1913dup	NP_001245210.1:p.Ile638MetfsTer16
XM_005264332.2:c.2048_2111dup	XP_005264389.2:p.Ile704MetfsTer16
XM_011532867.1:c.2048_2111dup	XP_011531169.1:p.Ile704MetfsTer16
XR_939685.1:n.2120_2183dup
XM_005264332.4:c.2048_2111dup	XP_005264389.2:p.Ile704MetfsTer16
XM_011532867.2:c.2048_2111dup	XP_011531169.1:p.Ile704MetfsTer16
XR_001738747.2:n.2110_2173dup
XR_939685.2:n.2110_2173dup
NM_000251.3:c.2048_2111dup MANE Select	NP_000242.1:p.Ile704MetfsTer16