Canonical Allele Identifier: CA487155767
Gene: LTBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.74967686G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74500983G>T , CM000676.2:g.74500983G>T GRCh38
NC_000014.8:g.74967686G>T , CM000676.1:g.74967686G>T GRCh37
NC_000014.7:g.74037439G>T NCBI36
NG_021486.1:g.116349C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261978.9:c.5367C>A MANE Select ENSP00000261978.4:p.Val1789=
ENST00000261978.8:c.5367C>A ENSP00000261978.4:p.Val1789=
ENST00000553939.5:c.*146C>A ENSP00000452110.1:n.*146C>A
ENST00000554861.1:n.585C>A
ENST00000556690.5:c.5235C>A ENSP00000451477.1:p.Val1745=
NM_000428.2:c.5367C>A NP_000419.1:p.Val1789=
XM_011536765.1:c.4986C>A XP_011535067.1:p.Val1662=
XM_011536766.1:c.4908C>A XP_011535068.1:p.Val1636=
XM_011536767.1:c.4884C>A XP_011535069.1:p.Val1628=
XM_011536765.2:c.4986C>A XP_011535067.1:p.Val1662=
NM_000428.3:c.5367C>A MANE Select NP_000419.1:p.Val1789=