Canonical Allele Identifier: CA2147086443
Community Standard Title: NM_000428.3(LTBP2):c.1999A= (p.Ile667=)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74529111T= , CM000676.2:g.74529111T= GRCh38
NC_000014.8:g.74995814T= , CM000676.1:g.74995814T= GRCh37
NC_000014.7:g.74065567T= NCBI36
NG_021486.1:g.88221A=

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.1999A= MANE Select NP_000419.1:p.Ile667=
ENST00000261978.9:c.1999A= MANE Select ENSP00000261978.4:p.Ile667=
NM_000428.2:c.1999A= NP_000419.1:p.Ile667=
ENST00000261978.8:c.1999A= ENSP00000261978.4:p.Ile667=
ENST00000553939.5:c.1999A= ENSP00000452110.1:p.Ile667=
ENST00000556690.5:c.1999A= ENSP00000451477.1:p.Ile667=
XM_011536765.1:c.1988-1745A= XP_011535067.1:n.1988-1745A=
XM_011536765.2:c.1988-1745A= XP_011535067.1:n.1988-1745A=
XM_011536766.1:c.1540A= XP_011535068.1:p.Ile514=
XM_011536767.1:c.1516A= XP_011535069.1:p.Ile506=