Canonical Allele Identifier: CA2194780719

Gene: MESP2

Linked Data

• ClinVar Variation Id: 1354759
• ClinVar RCV Id: RCV001866584
• dbSNP Id: rs1968363285

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89776519_89776532dup , CM000677.2:g.89776519_89776532dup	GRCh38
NC_000015.9:g.90319750_90319763dup , CM000677.1:g.90319750_90319763dup	GRCh37
NC_000015.8:g.88120754_88120767dup	NCBI36
NG_008608.1:g.5162_5175dup
NG_008608.2:g.20929_20942dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341735.5:c.162_175dup MANE Select	ENSP00000342392.3:p.Cys59TyrfsTer?
ENST00000341735.3:c.162_175dup	ENSP00000342392.3:p.Cys59TyrfsTer?
ENST00000558723.1:n.39-1546_39-1533dup
ENST00000560219.2:c.31-1546_31-1533dup	ENSP00000452998.1:n.31-1546_31-1533dup
NM_001039958.1:c.162_175dup	NP_001035047.1:p.Cys59TyrfsTer?
NM_001039958.2:c.162_175dup MANE Select	NP_001035047.1:p.Cys59TyrfsTer?