Canonical Allele Identifier: CA2625672202
Gene: LTBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74500983dup , CM000676.2:g.74500983dup GRCh38
NC_000014.8:g.74967686dup , CM000676.1:g.74967686dup GRCh37
NC_000014.7:g.74037439dup NCBI36
NG_021486.1:g.116350dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261978.9:c.5368dup MANE Select ENSP00000261978.4:p.His1790ProfsTer22
ENST00000261978.8:c.5368dup ENSP00000261978.4:p.His1790ProfsTer22
ENST00000553939.5:c.*147dup ENSP00000452110.1:n.*147dup
ENST00000554861.1:n.586dup
ENST00000556690.5:c.5236dup ENSP00000451477.1:p.His1746ProfsTer22
NM_000428.2:c.5368dup NP_000419.1:p.His1790ProfsTer22
XM_011536765.1:c.4987dup XP_011535067.1:p.His1663ProfsTer22
XM_011536766.1:c.4909dup XP_011535068.1:p.His1637ProfsTer22
XM_011536767.1:c.4885dup XP_011535069.1:p.His1629ProfsTer22
XM_011536765.2:c.4987dup XP_011535067.1:p.His1663ProfsTer22
NM_000428.3:c.5368dup MANE Select NP_000419.1:p.His1790ProfsTer22