Canonical Allele Identifier: CA2573151367
Gene: MESP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1456533
ClinVar RCV Id: RCV001951195
dbSNP Id: rs2141774639

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89776681_89776684dup , CM000677.2:g.89776681_89776684dup GRCh38
NC_000015.9:g.90319912_90319915dup , CM000677.1:g.90319912_90319915dup GRCh37
NC_000015.8:g.88120916_88120919dup NCBI36
NG_008608.1:g.5324_5327dup
NG_008608.2:g.21091_21094dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341735.5:c.324_327dup MANE Select ENSP00000342392.3:p.Pro110AlafsTer?
ENST00000341735.3:c.324_327dup ENSP00000342392.3:p.Pro110AlafsTer?
ENST00000558723.1:n.39-1384_39-1381dup
ENST00000560219.2:c.31-1384_31-1381dup ENSP00000452998.1:n.31-1384_31-1381dup
NM_001039958.1:c.324_327dup NP_001035047.1:p.Pro110AlafsTer?
NM_001039958.2:c.324_327dup MANE Select NP_001035047.1:p.Pro110AlafsTer?