Canonical Allele Identifier: CA2697549292
Gene: MESP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2755648
ClinVar RCV Id: RCV003571407
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89776678del , CM000677.2:g.89776678del GRCh38
NC_000015.9:g.90319909del , CM000677.1:g.90319909del GRCh37
NC_000015.8:g.88120913del NCBI36
NG_008608.1:g.5321del
NG_008608.2:g.21088del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341735.5:c.321del MANE Select ENSP00000342392.3:p.Leu108CysfsTer12
ENST00000341735.3:c.321del ENSP00000342392.3:p.Leu108CysfsTer12
ENST00000558723.1:n.39-1387del
ENST00000560219.2:c.31-1387del ENSP00000452998.1:n.31-1387del
NM_001039958.1:c.321del NP_001035047.1:p.Leu108CysfsTer12
NM_001039958.2:c.321del MANE Select NP_001035047.1:p.Leu108CysfsTer12
Search 100 bp 5'
Search 100 bp 3'