Canonical Allele Identifier: CA7268486

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74501580G>A , CM000676.2:g.74501580G>A	GRCh38
NC_000014.8:g.74968283G>A , CM000676.1:g.74968283G>A	GRCh37
NC_000014.7:g.74038036G>A	NCBI36
NG_021486.1:g.115752C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.5181C>T MANE Select	NP_000419.1:p.Ala1727=
ENST00000261978.9:c.5181C>T MANE Select	ENSP00000261978.4:p.Ala1727=
NM_000428.2:c.5181C>T	NP_000419.1:p.Ala1727=
ENST00000261978.8:c.5181C>T	ENSP00000261978.4:p.Ala1727=
ENST00000553939.5:c.5270C>T	ENSP00000452110.1:p.Pro1757Leu
ENST00000554861.1:n.399C>T
ENST00000556690.5:c.5049C>T	ENSP00000451477.1:p.Ala1683=
XM_011536765.1:c.4800C>T	XP_011535067.1:p.Ala1600=
XM_011536765.2:c.4800C>T	XP_011535067.1:p.Ala1600=
XM_011536766.1:c.4722C>T	XP_011535068.1:p.Ala1574=
XM_011536767.1:c.4698C>T	XP_011535069.1:p.Ala1566=