Canonical Allele Identifier: CA017234
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90543
ClinVar RCV Id: RCV000076038
dbSNP Id: rs267607693
MyVariant Identifiers: chr2:g.47656901_47656902insA (hg19) chr2:g.47429762_47429763insA (hg38)
PubMed: PMID:9611074 PMID:10471527 PMID:10495924 PMID:10564582 PMID:12362848
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47429762_47429763insA , CM000664.2:g.47429762_47429763insA GRCh38
NC_000002.11:g.47656901_47656902insA , CM000664.1:g.47656901_47656902insA GRCh37
NC_000002.10:g.47510405_47510406insA NCBI36
NG_007110.2:g.31639_31640insA , LRG_218:g.31639_31640insA

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1097_1098insA ENSP00000495641.2:p.Phe366LeufsTer23
ENST00000233146.7:c.1097_1098insA MANE Select ENSP00000233146.2:p.Phe366LeufsTer23
ENST00000543555.6:c.899_900insA ENSP00000442697.1:p.Phe300LeufsTer23
ENST00000644092.1:c.1097_1098insA ENSP00000496351.1:p.Phe366LeufsTer23
ENST00000645339.1:c.1097_1098insA ENSP00000496441.1:p.Phe366LeufsTer23
ENST00000645506.1:c.1097_1098insA ENSP00000495455.1:p.Phe366LeufsTer23
ENST00000646415.1:c.1097_1098insA ENSP00000495543.1:p.Phe366LeufsTer23
ENST00000233146.6:c.1097_1098insA ENSP00000233146.2:p.Phe366LeufsTer23
ENST00000406134.5:c.1097_1098insA ENSP00000384199.1:p.Phe366LeufsTer23
ENST00000543555.5:c.899_900insA ENSP00000442697.1:p.Phe300LeufsTer23
ENST00000610696.4:c.1097_1098insA ENSP00000483159.1:p.Phe366LeufsTer23
ENST00000613514.4:c.1097_1098insA ENSP00000484137.1:p.Phe366LeufsTer23
ENST00000617333.3:c.1097_1098insA ENSP00000482468.1:p.Phe366LeufsTer?
ENST00000617938.4:c.*69_*70insA ENSP00000481158.1:n.*69_*70insA
ENST00000621359.2:c.1097_1098insA ENSP00000481416.1:p.Phe366LeufsTer23
NM_000251.2:c.1097_1098insA , LRG_218t1:c.1097_1098insA NP_000242.1:p.Phe366LeufsTer23
NM_001258281.1:c.899_900insA NP_001245210.1:p.Phe300LeufsTer23
XM_005264332.2:c.1097_1098insA XP_005264389.2:p.Phe366LeufsTer23
XM_011532867.1:c.1097_1098insA XP_011531169.1:p.Phe366LeufsTer23
XR_939685.1:n.1169_1170insA
XM_005264332.4:c.1097_1098insA XP_005264389.2:p.Phe366LeufsTer23
XM_011532867.2:c.1097_1098insA XP_011531169.1:p.Phe366LeufsTer23
XR_001738747.2:n.1159_1160insA
XR_939685.2:n.1159_1160insA
NM_000251.3:c.1097_1098insA MANE Select NP_000242.1:p.Phe366LeufsTer23
Search 100 bp 5'
Search 100 bp 3'