Canonical Allele Identifier: CA7268408

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500933G>A , CM000676.2:g.74500933G>A	GRCh38
NC_000014.8:g.74967636G>A , CM000676.1:g.74967636G>A	GRCh37
NC_000014.7:g.74037389G>A	NCBI36
NG_021486.1:g.116399C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.5417C>T MANE Select	NP_000419.1:p.Pro1806Leu
ENST00000261978.9:c.5417C>T MANE Select	ENSP00000261978.4:p.Pro1806Leu
NM_000428.2:c.5417C>T	NP_000419.1:p.Pro1806Leu
ENST00000261978.8:c.5417C>T	ENSP00000261978.4:p.Pro1806Leu
ENST00000553939.5:c.*196C>T	ENSP00000452110.1:n.*196C>T
ENST00000554861.1:n.635C>T
ENST00000556690.5:c.5285C>T	ENSP00000451477.1:p.Pro1762Leu
XM_011536765.1:c.5036C>T	XP_011535067.1:p.Pro1679Leu
XM_011536765.2:c.5036C>T	XP_011535067.1:p.Pro1679Leu
XM_011536766.1:c.4958C>T	XP_011535068.1:p.Pro1653Leu
XM_011536767.1:c.4934C>T	XP_011535069.1:p.Pro1645Leu