Canonical Allele Identifier: CA7270049

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74555619G>A , CM000676.2:g.74555619G>A	GRCh38
NC_000014.8:g.75022322G>A , CM000676.1:g.75022322G>A	GRCh37
NC_000014.7:g.74092075G>A	NCBI36
NG_021486.1:g.61713C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.905C>T MANE Select	NP_000419.1:p.Pro302Leu
ENST00000261978.9:c.905C>T MANE Select	ENSP00000261978.4:p.Pro302Leu
NM_000428.2:c.905C>T	NP_000419.1:p.Pro302Leu
ENST00000261978.8:c.905C>T	ENSP00000261978.4:p.Pro302Leu
ENST00000553939.5:c.905C>T	ENSP00000452110.1:p.Pro302Leu
ENST00000556690.5:c.905C>T	ENSP00000451477.1:p.Pro302Leu
ENST00000557425.1:n.124-4269C>T
XM_011536765.1:c.905C>T	XP_011535067.1:p.Pro302Leu
XM_011536765.2:c.905C>T	XP_011535067.1:p.Pro302Leu
XM_011536766.1:c.446C>T	XP_011535068.1:p.Pro149Leu
XM_011536767.1:c.422C>T	XP_011535069.1:p.Pro141Leu