Canonical Allele Identifier: CA390399973

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74552204G>C , CM000676.2:g.74552204G>C	GRCh38
NC_000014.8:g.75018907G>C , CM000676.1:g.75018907G>C	GRCh37
NC_000014.7:g.74088660G>C	NCBI36
NG_021486.1:g.65128C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.1382C>G MANE Select	NP_000419.1:p.Pro461Arg
ENST00000261978.9:c.1382C>G MANE Select	ENSP00000261978.4:p.Pro461Arg
NM_000428.2:c.1382C>G	NP_000419.1:p.Pro461Arg
ENST00000261978.8:c.1382C>G	ENSP00000261978.4:p.Pro461Arg
ENST00000553939.5:c.1382C>G	ENSP00000452110.1:p.Pro461Arg
ENST00000556690.5:c.1382C>G	ENSP00000451477.1:p.Pro461Arg
ENST00000557425.1:n.124-854C>G
XM_011536765.1:c.1382C>G	XP_011535067.1:p.Pro461Arg
XM_011536765.2:c.1382C>G	XP_011535067.1:p.Pro461Arg
XM_011536766.1:c.923C>G	XP_011535068.1:p.Pro308Arg
XM_011536767.1:c.899C>G	XP_011535069.1:p.Pro300Arg