Canonical Allele Identifier: CA129849

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 7554
• ClinVar RCV Id: RCV000007990 ; RCV000024324 ; RCV001311363 ; RCV003313914
• dbSNP Id: rs121918355
• ExAC: 14:75022332 G / A
• gnomAD v2: 14-75022332-G-A
• gnomAD v4: 14-74555629-G-A
• MyVariant Identifiers: chr14:g.75022332G>A (hg19) ; chr14:g.74555629G>A (hg38)
• PubMed: PMID:19361779 ; PMID:20179738 ; PMID:21081970

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74555629G>A , CM000676.2:g.74555629G>A	GRCh38
NC_000014.8:g.75022332G>A , CM000676.1:g.75022332G>A	GRCh37
NC_000014.7:g.74092085G>A	NCBI36
NG_021486.1:g.61703C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.895C>T MANE Select	ENSP00000261978.4:p.Arg299Ter
ENST00000261978.8:c.895C>T	ENSP00000261978.4:p.Arg299Ter
ENST00000553939.5:c.895C>T	ENSP00000452110.1:p.Arg299Ter
ENST00000556690.5:c.895C>T	ENSP00000451477.1:p.Arg299Ter
ENST00000557425.1:n.124-4279C>T
NM_000428.2:c.895C>T	NP_000419.1:p.Arg299Ter
XM_011536765.1:c.895C>T	XP_011535067.1:p.Arg299Ter
XM_011536766.1:c.436C>T	XP_011535068.1:p.Arg146Ter
XM_011536767.1:c.412C>T	XP_011535069.1:p.Arg138Ter
XM_011536765.2:c.895C>T	XP_011535067.1:p.Arg299Ter
NM_000428.3:c.895C>T MANE Select	NP_000419.1:p.Arg299Ter