Canonical Allele Identifier: CA2147073472
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74501007C= , CM000676.2:g.74501007C= GRCh38
NC_000014.8:g.74967710C= , CM000676.1:g.74967710C= GRCh37
NC_000014.7:g.74037463C= NCBI36
NG_021486.1:g.116325G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.5343G= MANE Select ENSP00000261978.4:p.Leu1781=
ENST00000261978.8:c.5343G= ENSP00000261978.4:p.Leu1781=
ENST00000553939.5:c.*122G= ENSP00000452110.1:n.*122G=
ENST00000554861.1:n.561G=
ENST00000556690.5:c.5211G= ENSP00000451477.1:p.Leu1737=
NM_000428.2:c.5343G= NP_000419.1:p.Leu1781=
XM_011536765.1:c.4962G= XP_011535067.1:p.Leu1654=
XM_011536766.1:c.4884G= XP_011535068.1:p.Leu1628=
XM_011536767.1:c.4860G= XP_011535069.1:p.Leu1620=
XM_011536765.2:c.4962G= XP_011535067.1:p.Leu1654=
NM_000428.3:c.5343G= MANE Select NP_000419.1:p.Leu1781=