Canonical Allele Identifier: CA619858931
Gene: MESP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677202
dbSNP Id: rs1218757887

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89776758_89776768dup , CM000677.2:g.89776758_89776768dup GRCh38
NC_000015.9:g.90319989_90319999dup , CM000677.1:g.90319989_90319999dup GRCh37
NC_000015.8:g.88120993_88121003dup NCBI36
NG_008608.1:g.5401_5411dup
NG_008608.2:g.21168_21178dup

Transcript Alleles

HGVS Amino-acid change
ENST00000341735.5:c.401_411dup MANE Select ENSP00000342392.3:p.Val138ThrfsTer?
ENST00000341735.3:c.401_411dup ENSP00000342392.3:p.Val138ThrfsTer?
ENST00000558723.1:n.39-1307_39-1297dup
ENST00000560219.2:c.31-1307_31-1297dup ENSP00000452998.1:n.31-1307_31-1297dup
NM_001039958.1:c.401_411dup NP_001035047.1:p.Val138ThrfsTer?
NM_001039958.2:c.401_411dup MANE Select NP_001035047.1:p.Val138ThrfsTer?