Canonical Allele Identifier: CA390382069

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967688C>A (hg19) ; chr14:g.74500985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500985C>A , CM000676.2:g.74500985C>A	GRCh38
NC_000014.8:g.74967688C>A , CM000676.1:g.74967688C>A	GRCh37
NC_000014.7:g.74037441C>A	NCBI36
NG_021486.1:g.116347G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5365G>T MANE Select	ENSP00000261978.4:p.Val1789Phe
ENST00000261978.8:c.5365G>T	ENSP00000261978.4:p.Val1789Phe
ENST00000553939.5:c.*144G>T	ENSP00000452110.1:n.*144G>T
ENST00000554861.1:n.583G>T
ENST00000556690.5:c.5233G>T	ENSP00000451477.1:p.Val1745Phe
NM_000428.2:c.5365G>T	NP_000419.1:p.Val1789Phe
XM_011536765.1:c.4984G>T	XP_011535067.1:p.Val1662Phe
XM_011536766.1:c.4906G>T	XP_011535068.1:p.Val1636Phe
XM_011536767.1:c.4882G>T	XP_011535069.1:p.Val1628Phe
XM_011536765.2:c.4984G>T	XP_011535067.1:p.Val1662Phe
NM_000428.3:c.5365G>T MANE Select	NP_000419.1:p.Val1789Phe