Canonical Allele Identifier: CA390382006

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967671C>A (hg19) ; chr14:g.74500968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500968C>A , CM000676.2:g.74500968C>A	GRCh38
NC_000014.8:g.74967671C>A , CM000676.1:g.74967671C>A	GRCh37
NC_000014.7:g.74037424C>A	NCBI36
NG_021486.1:g.116364G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5382G>T MANE Select	ENSP00000261978.4:p.Glu1794Asp
ENST00000261978.8:c.5382G>T	ENSP00000261978.4:p.Glu1794Asp
ENST00000553939.5:c.*161G>T	ENSP00000452110.1:n.*161G>T
ENST00000554861.1:n.600G>T
ENST00000556690.5:c.5250G>T	ENSP00000451477.1:p.Glu1750Asp
NM_000428.2:c.5382G>T	NP_000419.1:p.Glu1794Asp
XM_011536765.1:c.5001G>T	XP_011535067.1:p.Glu1667Asp
XM_011536766.1:c.4923G>T	XP_011535068.1:p.Glu1641Asp
XM_011536767.1:c.4899G>T	XP_011535069.1:p.Glu1633Asp
XM_011536765.2:c.5001G>T	XP_011535067.1:p.Glu1667Asp
NM_000428.3:c.5382G>T MANE Select	NP_000419.1:p.Glu1794Asp