Canonical Allele Identifier: CA2575576827
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74501035_74501036del , CM000676.2:g.74501035_74501036del GRCh38
NC_000014.8:g.74967738_74967739del , CM000676.1:g.74967738_74967739del GRCh37
NC_000014.7:g.74037491_74037492del NCBI36
NG_021486.1:g.116298_116299del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.5321-5_5321-4del MANE Select ENSP00000261978.4:n.5321-5_5321-4del
ENST00000261978.8:c.5321-5_5321-4del ENSP00000261978.4:n.5321-5_5321-4del
ENST00000553939.5:c.*100-5_*100-4del ENSP00000452110.1:n.*100-5_*100-4del
ENST00000554861.1:n.539-5_539-4del
ENST00000556690.5:c.5189-5_5189-4del ENSP00000451477.1:n.5189-5_5189-4del
NM_000428.2:c.5321-5_5321-4del NP_000419.1:n.5321-5_5321-4del
XM_011536765.1:c.4940-5_4940-4del XP_011535067.1:n.4940-5_4940-4del
XM_011536766.1:c.4862-5_4862-4del XP_011535068.1:n.4862-5_4862-4del
XM_011536767.1:c.4838-5_4838-4del XP_011535069.1:n.4838-5_4838-4del
XM_011536765.2:c.4940-5_4940-4del XP_011535067.1:n.4940-5_4940-4del
NM_000428.3:c.5321-5_5321-4del MANE Select NP_000419.1:n.5321-5_5321-4del