Canonical Allele Identifier: CA018566
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142279
ClinVar RCV Id: RCV000131303 RCV000823121 RCV003315905
dbSNP Id: rs587782355
gnomAD v4: 2-47466677-G-T
MyVariant Identifiers: chr2:g.47693816G>T (hg19) chr2:g.47466677G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47466677G>T , CM000664.2:g.47466677G>T GRCh38
NC_000002.11:g.47693816G>T , CM000664.1:g.47693816G>T GRCh37
NC_000002.10:g.47547320G>T NCBI36
NG_007110.2:g.68554G>T , LRG_218:g.68554G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1530G>T ENSP00000495641.2:p.Gln510His
ENST00000233146.7:c.1530G>T MANE Select ENSP00000233146.2:p.Gln510His
ENST00000543555.6:c.1332G>T ENSP00000442697.1:p.Gln444His
ENST00000644092.1:c.1530G>T ENSP00000496351.1:p.Gln510His
ENST00000645339.1:c.1530G>T ENSP00000496441.1:p.Gln510His
ENST00000645506.1:c.1530G>T ENSP00000495455.1:p.Gln510His
ENST00000646415.1:c.1530G>T ENSP00000495543.1:p.Gln510His
ENST00000233146.6:c.1530G>T ENSP00000233146.2:p.Gln510His
ENST00000406134.5:c.1530G>T ENSP00000384199.1:p.Gln510His
ENST00000543555.5:c.1332G>T ENSP00000442697.1:p.Gln444His
ENST00000610696.4:c.1530G>T ENSP00000483159.1:p.Gln510His
ENST00000613514.4:c.*70G>T ENSP00000484137.1:n.*70G>T
ENST00000617333.3:c.*296G>T ENSP00000482468.1:n.*296G>T
ENST00000617938.4:c.*502G>T ENSP00000481158.1:n.*502G>T
ENST00000621359.2:c.1530G>T ENSP00000481416.1:p.Gln510His
NM_000251.2:c.1530G>T , LRG_218t1:c.1530G>T NP_000242.1:p.Gln510His
NM_001258281.1:c.1332G>T NP_001245210.1:p.Gln444His
XM_005264332.2:c.1530G>T XP_005264389.2:p.Gln510His
XM_011532867.1:c.1530G>T XP_011531169.1:p.Gln510His
XR_939685.1:n.1602G>T
XM_005264332.4:c.1530G>T XP_005264389.2:p.Gln510His
XM_011532867.2:c.1530G>T XP_011531169.1:p.Gln510His
XR_001738747.2:n.1592G>T
XR_939685.2:n.1592G>T
NM_000251.3:c.1530G>T MANE Select NP_000242.1:p.Gln510His
Search 100 bp 5'
Search 100 bp 3'