Canonical Allele Identifier: CA390386045

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74505102T>G , CM000676.2:g.74505102T>G	GRCh38
NC_000014.8:g.74971805T>G , CM000676.1:g.74971805T>G	GRCh37
NC_000014.7:g.74041558T>G	NCBI36
NG_021486.1:g.112230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4250A>C MANE Select	ENSP00000261978.4:p.Gln1417Pro
ENST00000261978.8:c.4250A>C	ENSP00000261978.4:p.Gln1417Pro
ENST00000553939.5:c.4250A>C	ENSP00000452110.1:p.Gln1417Pro
ENST00000556690.5:c.4118A>C	ENSP00000451477.1:p.Gln1373Pro
NM_000428.2:c.4250A>C	NP_000419.1:p.Gln1417Pro
XM_011536765.1:c.3869A>C	XP_011535067.1:p.Gln1290Pro
XM_011536766.1:c.3791A>C	XP_011535068.1:p.Gln1264Pro
XM_011536767.1:c.3767A>C	XP_011535069.1:p.Gln1256Pro
XM_011536765.2:c.3869A>C	XP_011535067.1:p.Gln1290Pro
NM_000428.3:c.4250A>C MANE Select	NP_000419.1:p.Gln1417Pro