Canonical Allele Identifier: CA390388358

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74508727C>G , CM000676.2:g.74508727C>G	GRCh38
NC_000014.8:g.74975430C>G , CM000676.1:g.74975430C>G	GRCh37
NC_000014.7:g.74045183C>G	NCBI36
NG_021486.1:g.108605G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.3529G>C MANE Select	NP_000419.1:p.Val1177Leu
ENST00000261978.9:c.3529G>C MANE Select	ENSP00000261978.4:p.Val1177Leu
NM_000428.2:c.3529G>C	NP_000419.1:p.Val1177Leu
ENST00000261978.8:c.3529G>C	ENSP00000261978.4:p.Val1177Leu
ENST00000553939.5:c.3529G>C	ENSP00000452110.1:p.Val1177Leu
ENST00000556206.1:c.326G>C
ENST00000556690.5:c.3529G>C	ENSP00000451477.1:p.Val1177Leu
XM_011536765.1:c.3148G>C	XP_011535067.1:p.Val1050Leu
XM_011536765.2:c.3148G>C	XP_011535067.1:p.Val1050Leu
XM_011536766.1:c.3070G>C	XP_011535068.1:p.Val1024Leu
XM_011536767.1:c.3046G>C	XP_011535069.1:p.Val1016Leu