Canonical Allele Identifier: CA340355
Gene: MESP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5183
ClinVar RCV Id: RCV000005492
dbSNP Id: rs113994158

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89776857_89776860dup , CM000677.2:g.89776857_89776860dup GRCh38
NC_000015.9:g.90320088_90320091dup , CM000677.1:g.90320088_90320091dup GRCh37
NC_000015.8:g.88121092_88121095dup NCBI36
NG_008608.1:g.5500_5503dup
NG_008608.2:g.21267_21270dup

Transcript Alleles

HGVS Amino-acid change
NM_001039958.1:n.500_503dup VV NP_001035047.1:p.Gly169ProfsTer?
NM_001039958.2:c.500_503dup VV
ENST00000341735.3:n.500_503dup ENSP00000342392.3:p.Gly169ProfsTer?
ENST00000558723.1:n.39-1208_39-1205dup
ENST00000560219.2:c.31-1208_31-1205dup ENSP00000452998.1:p.=