Canonical Allele Identifier: CA390382072

Gene: LTBP2

Linked Data

• gnomAD v4: 14-74500986-A-T
• MyVariant Identifiers: chr14:g.74967689A>T (hg19) ; chr14:g.74500986A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500986A>T , CM000676.2:g.74500986A>T	GRCh38
NC_000014.8:g.74967689A>T , CM000676.1:g.74967689A>T	GRCh37
NC_000014.7:g.74037442A>T	NCBI36
NG_021486.1:g.116346T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5364T>A MANE Select	ENSP00000261978.4:p.Cys1788Ter
ENST00000261978.8:c.5364T>A	ENSP00000261978.4:p.Cys1788Ter
ENST00000553939.5:c.*143T>A	ENSP00000452110.1:n.*143T>A
ENST00000554861.1:n.582T>A
ENST00000556690.5:c.5232T>A	ENSP00000451477.1:p.Cys1744Ter
NM_000428.2:c.5364T>A	NP_000419.1:p.Cys1788Ter
XM_011536765.1:c.4983T>A	XP_011535067.1:p.Cys1661Ter
XM_011536766.1:c.4905T>A	XP_011535068.1:p.Cys1635Ter
XM_011536767.1:c.4881T>A	XP_011535069.1:p.Cys1627Ter
XM_011536765.2:c.4983T>A	XP_011535067.1:p.Cys1661Ter
NM_000428.3:c.5364T>A MANE Select	NP_000419.1:p.Cys1788Ter