Canonical Allele Identifier: CA7269666

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74529098T>A , CM000676.2:g.74529098T>A	GRCh38
NC_000014.8:g.74995801T>A , CM000676.1:g.74995801T>A	GRCh37
NC_000014.7:g.74065554T>A	NCBI36
NG_021486.1:g.88234A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.2012A>T MANE Select	NP_000419.1:p.Gln671Leu
ENST00000261978.9:c.2012A>T MANE Select	ENSP00000261978.4:p.Gln671Leu
NM_000428.2:c.2012A>T	NP_000419.1:p.Gln671Leu
ENST00000261978.8:c.2012A>T	ENSP00000261978.4:p.Gln671Leu
ENST00000553939.5:c.2012A>T	ENSP00000452110.1:p.Gln671Leu
ENST00000556690.5:c.2012A>T	ENSP00000451477.1:p.Gln671Leu
XM_011536765.1:c.1988-1732A>T	XP_011535067.1:n.1988-1732A>T
XM_011536765.2:c.1988-1732A>T	XP_011535067.1:n.1988-1732A>T
XM_011536766.1:c.1553A>T	XP_011535068.1:p.Gln518Leu
XM_011536767.1:c.1529A>T	XP_011535069.1:p.Gln510Leu