Canonical Allele Identifier: CA7268613

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503230G>A , CM000676.2:g.74503230G>A	GRCh38
NC_000014.8:g.74969933G>A , CM000676.1:g.74969933G>A	GRCh37
NC_000014.7:g.74039686G>A	NCBI36
NG_021486.1:g.114102C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.4877C>T MANE Select	NP_000419.1:p.Pro1626Leu
ENST00000261978.9:c.4877C>T MANE Select	ENSP00000261978.4:p.Pro1626Leu
NM_000428.2:c.4877C>T	NP_000419.1:p.Pro1626Leu
ENST00000261978.8:c.4877C>T	ENSP00000261978.4:p.Pro1626Leu
ENST00000553939.5:c.4877C>T	ENSP00000452110.1:p.Pro1626Leu
ENST00000556690.5:c.4745C>T	ENSP00000451477.1:p.Pro1582Leu
XM_011536765.1:c.4496C>T	XP_011535067.1:p.Pro1499Leu
XM_011536765.2:c.4496C>T	XP_011535067.1:p.Pro1499Leu
XM_011536766.1:c.4418C>T	XP_011535068.1:p.Pro1473Leu
XM_011536767.1:c.4394C>T	XP_011535069.1:p.Pro1465Leu