Canonical Allele Identifier: CA390383992

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74502911C>A , CM000676.2:g.74502911C>A	GRCh38
NC_000014.8:g.74969614C>A , CM000676.1:g.74969614C>A	GRCh37
NC_000014.7:g.74039367C>A	NCBI36
NG_021486.1:g.114421G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4912G>T MANE Select	ENSP00000261978.4:p.Val1638Leu
ENST00000261978.8:c.4912G>T	ENSP00000261978.4:p.Val1638Leu
ENST00000553939.5:c.4912G>T	ENSP00000452110.1:p.Val1638Leu
ENST00000556690.5:c.4780G>T	ENSP00000451477.1:p.Val1594Leu
NM_000428.2:c.4912G>T	NP_000419.1:p.Val1638Leu
XM_011536765.1:c.4531G>T	XP_011535067.1:p.Val1511Leu
XM_011536766.1:c.4453G>T	XP_011535068.1:p.Val1485Leu
XM_011536767.1:c.4429G>T	XP_011535069.1:p.Val1477Leu
XM_011536765.2:c.4531G>T	XP_011535067.1:p.Val1511Leu
NM_000428.3:c.4912G>T MANE Select	NP_000419.1:p.Val1638Leu