Canonical Allele Identifier: CA390382031

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967677G>T (hg19) ; chr14:g.74500974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500974G>T , CM000676.2:g.74500974G>T	GRCh38
NC_000014.8:g.74967677G>T , CM000676.1:g.74967677G>T	GRCh37
NC_000014.7:g.74037430G>T	NCBI36
NG_021486.1:g.116358C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5376C>A MANE Select	ENSP00000261978.4:p.Tyr1792Ter
ENST00000261978.8:c.5376C>A	ENSP00000261978.4:p.Tyr1792Ter
ENST00000553939.5:c.*155C>A	ENSP00000452110.1:n.*155C>A
ENST00000554861.1:n.594C>A
ENST00000556690.5:c.5244C>A	ENSP00000451477.1:p.Tyr1748Ter
NM_000428.2:c.5376C>A	NP_000419.1:p.Tyr1792Ter
XM_011536765.1:c.4995C>A	XP_011535067.1:p.Tyr1665Ter
XM_011536766.1:c.4917C>A	XP_011535068.1:p.Tyr1639Ter
XM_011536767.1:c.4893C>A	XP_011535069.1:p.Tyr1631Ter
XM_011536765.2:c.4995C>A	XP_011535067.1:p.Tyr1665Ter
NM_000428.3:c.5376C>A MANE Select	NP_000419.1:p.Tyr1792Ter