Canonical Allele Identifier: CA7268419

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 1467876
• ClinVar RCV Id: RCV001968715
• dbSNP Id: rs368636646
• ExAC: 14:74967688 C / G
• gnomAD v2: 14-74967688-C-G
• gnomAD v3: 14-74500985-C-G
• gnomAD v4: 14-74500985-C-G
• MyVariant Identifiers: chr14:g.74967688C>G (hg19) ; chr14:g.74500985C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5365G>C MANE Select	ENSP00000261978.4:p.Val1789Leu
ENST00000261978.8:c.5365G>C	ENSP00000261978.4:p.Val1789Leu
ENST00000553939.5:c.*144G>C	ENSP00000452110.1:n.*144G>C
ENST00000554861.1:n.583G>C
ENST00000556690.5:c.5233G>C	ENSP00000451477.1:p.Val1745Leu
NM_000428.2:c.5365G>C	NP_000419.1:p.Val1789Leu
XM_011536765.1:c.4984G>C	XP_011535067.1:p.Val1662Leu
XM_011536766.1:c.4906G>C	XP_011535068.1:p.Val1636Leu
XM_011536767.1:c.4882G>C	XP_011535069.1:p.Val1628Leu
XM_011536765.2:c.4984G>C	XP_011535067.1:p.Val1662Leu
NM_000428.3:c.5365G>C MANE Select	NP_000419.1:p.Val1789Leu