Canonical Allele Identifier: CA390382068

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967687A>C (hg19) ; chr14:g.74500984A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5366T>G MANE Select	ENSP00000261978.4:p.Val1789Gly
ENST00000261978.8:c.5366T>G	ENSP00000261978.4:p.Val1789Gly
ENST00000553939.5:c.*145T>G	ENSP00000452110.1:n.*145T>G
ENST00000554861.1:n.584T>G
ENST00000556690.5:c.5234T>G	ENSP00000451477.1:p.Val1745Gly
NM_000428.2:c.5366T>G	NP_000419.1:p.Val1789Gly
XM_011536765.1:c.4985T>G	XP_011535067.1:p.Val1662Gly
XM_011536766.1:c.4907T>G	XP_011535068.1:p.Val1636Gly
XM_011536767.1:c.4883T>G	XP_011535069.1:p.Val1628Gly
XM_011536765.2:c.4985T>G	XP_011535067.1:p.Val1662Gly
NM_000428.3:c.5366T>G MANE Select	NP_000419.1:p.Val1789Gly