Canonical Allele Identifier: CA7268522

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74502668C>T , CM000676.2:g.74502668C>T	GRCh38
NC_000014.8:g.74969371C>T , CM000676.1:g.74969371C>T	GRCh37
NC_000014.7:g.74039124C>T	NCBI36
NG_021486.1:g.114664G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.5155G>A MANE Select	NP_000419.1:p.Val1719Met
ENST00000261978.9:c.5155G>A MANE Select	ENSP00000261978.4:p.Val1719Met
NM_000428.2:c.5155G>A	NP_000419.1:p.Val1719Met
ENST00000261978.8:c.5155G>A	ENSP00000261978.4:p.Val1719Met
ENST00000553939.5:c.5155G>A	ENSP00000452110.1:p.Val1719Met
ENST00000556690.5:c.5023G>A	ENSP00000451477.1:p.Val1675Met
XM_011536765.1:c.4774G>A	XP_011535067.1:p.Val1592Met
XM_011536765.2:c.4774G>A	XP_011535067.1:p.Val1592Met
XM_011536766.1:c.4696G>A	XP_011535068.1:p.Val1566Met
XM_011536767.1:c.4672G>A	XP_011535069.1:p.Val1558Met