Canonical Allele Identifier: CA390387968
Gene: LTBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74611626A>T , CM000676.2:g.74611626A>T GRCh38
NC_000014.8:g.75078329A>T , CM000676.1:g.75078329A>T GRCh37
NC_000014.7:g.74148082A>T NCBI36
NG_021486.1:g.5706T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261978.9:c.319T>A MANE Select ENSP00000261978.4:p.Ser107Thr
ENST00000261978.8:c.319T>A ENSP00000261978.4:p.Ser107Thr
ENST00000553939.5:c.319T>A ENSP00000452110.1:p.Ser107Thr
ENST00000556690.5:c.319T>A ENSP00000451477.1:p.Ser107Thr
ENST00000557425.1:n.123+420T>A
NM_000428.2:c.319T>A NP_000419.1:p.Ser107Thr
XM_011536765.1:c.319T>A XP_011535067.1:p.Ser107Thr
XM_011536767.1:c.11+6958T>A XP_011535069.1:n.11+6958T>A
XM_011536765.2:c.319T>A XP_011535067.1:p.Ser107Thr
NM_000428.3:c.319T>A MANE Select NP_000419.1:p.Ser107Thr