Canonical Allele Identifier: CA151341

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74508685C>T , CM000676.2:g.74508685C>T	GRCh38
NC_000014.8:g.74975388C>T , CM000676.1:g.74975388C>T	GRCh37
NC_000014.7:g.74045141C>T	NCBI36
NG_021486.1:g.108647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.3571G>A MANE Select	ENSP00000261978.4:p.Glu1191Lys
ENST00000261978.8:c.3571G>A	ENSP00000261978.4:p.Glu1191Lys
ENST00000553939.5:c.3571G>A	ENSP00000452110.1:p.Glu1191Lys
ENST00000556206.1:c.368G>A
ENST00000556690.5:c.3571G>A	ENSP00000451477.1:p.Glu1191Lys
NM_000428.2:c.3571G>A	NP_000419.1:p.Glu1191Lys
XM_011536765.1:c.3190G>A	XP_011535067.1:p.Glu1064Lys
XM_011536766.1:c.3112G>A	XP_011535068.1:p.Glu1038Lys
XM_011536767.1:c.3088G>A	XP_011535069.1:p.Glu1030Lys
XM_011536765.2:c.3190G>A	XP_011535067.1:p.Glu1064Lys
NM_000428.3:c.3571G>A MANE Select	NP_000419.1:p.Glu1191Lys