Canonical Allele Identifier: CA7268943

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74506810G>A , CM000676.2:g.74506810G>A	GRCh38
NC_000014.8:g.74973513G>A , CM000676.1:g.74973513G>A	GRCh37
NC_000014.7:g.74043266G>A	NCBI36
NG_021486.1:g.110522C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.3921C>T MANE Select	NP_000419.1:p.Cys1307=
ENST00000261978.9:c.3921C>T MANE Select	ENSP00000261978.4:p.Cys1307=
NM_000428.2:c.3921C>T	NP_000419.1:p.Cys1307=
ENST00000261978.8:c.3921C>T	ENSP00000261978.4:p.Cys1307=
ENST00000553939.5:c.3921C>T	ENSP00000452110.1:p.Cys1307=
ENST00000556206.1:c.595C>T
ENST00000556690.5:c.3789C>T	ENSP00000451477.1:p.Cys1263=
XM_011536765.1:c.3540C>T	XP_011535067.1:p.Cys1180=
XM_011536765.2:c.3540C>T	XP_011535067.1:p.Cys1180=
XM_011536766.1:c.3462C>T	XP_011535068.1:p.Cys1154=
XM_011536767.1:c.3438C>T	XP_011535069.1:p.Cys1146=