Canonical Allele Identifier: CA151339

Gene: LTBP2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.1999A>C MANE Select	ENSP00000261978.4:p.Ile667Leu
ENST00000261978.8:c.1999A>C	ENSP00000261978.4:p.Ile667Leu
ENST00000553939.5:c.1999A>C	ENSP00000452110.1:p.Ile667Leu
ENST00000556690.5:c.1999A>C	ENSP00000451477.1:p.Ile667Leu
NM_000428.2:c.1999A>C	NP_000419.1:p.Ile667Leu
XM_011536765.1:c.1988-1745A>C	XP_011535067.1:n.1988-1745A>C
XM_011536766.1:c.1540A>C	XP_011535068.1:p.Ile514Leu
XM_011536767.1:c.1516A>C	XP_011535069.1:p.Ile506Leu
XM_011536765.2:c.1988-1745A>C	XP_011535067.1:n.1988-1745A>C
NM_000428.3:c.1999A>C MANE Select	NP_000419.1:p.Ile667Leu