Canonical Allele Identifier: CA487155768

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 1531077
• ClinVar RCV Id: RCV002092258
• dbSNP Id: rs2139684382
• MyVariant Identifiers: chr14:g.74967689A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500986A>G , CM000676.2:g.74500986A>G	GRCh38
NC_000014.8:g.74967689A>G , CM000676.1:g.74967689A>G	GRCh37
NC_000014.7:g.74037442A>G	NCBI36
NG_021486.1:g.116346T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5364T>C MANE Select	ENSP00000261978.4:p.Cys1788=
ENST00000261978.8:c.5364T>C	ENSP00000261978.4:p.Cys1788=
ENST00000553939.5:c.*143T>C	ENSP00000452110.1:n.*143T>C
ENST00000554861.1:n.582T>C
ENST00000556690.5:c.5232T>C	ENSP00000451477.1:p.Cys1744=
NM_000428.2:c.5364T>C	NP_000419.1:p.Cys1788=
XM_011536765.1:c.4983T>C	XP_011535067.1:p.Cys1661=
XM_011536766.1:c.4905T>C	XP_011535068.1:p.Cys1635=
XM_011536767.1:c.4881T>C	XP_011535069.1:p.Cys1627=
XM_011536765.2:c.4983T>C	XP_011535067.1:p.Cys1661=
NM_000428.3:c.5364T>C MANE Select	NP_000419.1:p.Cys1788=