Canonical Allele Identifier: CA7268418

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 2178253
• ClinVar RCV Id: RCV002588570 ; RCV003274254
• dbSNP Id: rs529229239
• ExAC: 14:74967687 A / G
• gnomAD v2: 14-74967687-A-G
• gnomAD v4: 14-74500984-A-G
• MyVariant Identifiers: chr14:g.74967687A>G (hg19) ; chr14:g.74500984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500984A>G , CM000676.2:g.74500984A>G	GRCh38
NC_000014.8:g.74967687A>G , CM000676.1:g.74967687A>G	GRCh37
NC_000014.7:g.74037440A>G	NCBI36
NG_021486.1:g.116348T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5366T>C MANE Select	ENSP00000261978.4:p.Val1789Ala
ENST00000261978.8:c.5366T>C	ENSP00000261978.4:p.Val1789Ala
ENST00000553939.5:c.*145T>C	ENSP00000452110.1:n.*145T>C
ENST00000554861.1:n.584T>C
ENST00000556690.5:c.5234T>C	ENSP00000451477.1:p.Val1745Ala
NM_000428.2:c.5366T>C	NP_000419.1:p.Val1789Ala
XM_011536765.1:c.4985T>C	XP_011535067.1:p.Val1662Ala
XM_011536766.1:c.4907T>C	XP_011535068.1:p.Val1636Ala
XM_011536767.1:c.4883T>C	XP_011535069.1:p.Val1628Ala
XM_011536765.2:c.4985T>C	XP_011535067.1:p.Val1662Ala
NM_000428.3:c.5366T>C MANE Select	NP_000419.1:p.Val1789Ala