Canonical Allele Identifier: CA390382082

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967694G>C (hg19) ; chr14:g.74500991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500991G>C , CM000676.2:g.74500991G>C	GRCh38
NC_000014.8:g.74967694G>C , CM000676.1:g.74967694G>C	GRCh37
NC_000014.7:g.74037447G>C	NCBI36
NG_021486.1:g.116341C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5359C>G MANE Select	ENSP00000261978.4:p.Leu1787Val
ENST00000261978.8:c.5359C>G	ENSP00000261978.4:p.Leu1787Val
ENST00000553939.5:c.*138C>G	ENSP00000452110.1:n.*138C>G
ENST00000554861.1:n.577C>G
ENST00000556690.5:c.5227C>G	ENSP00000451477.1:p.Leu1743Val
NM_000428.2:c.5359C>G	NP_000419.1:p.Leu1787Val
XM_011536765.1:c.4978C>G	XP_011535067.1:p.Leu1660Val
XM_011536766.1:c.4900C>G	XP_011535068.1:p.Leu1634Val
XM_011536767.1:c.4876C>G	XP_011535069.1:p.Leu1626Val
XM_011536765.2:c.4978C>G	XP_011535067.1:p.Leu1660Val
NM_000428.3:c.5359C>G MANE Select	NP_000419.1:p.Leu1787Val