Canonical Allele Identifier: CA390382071

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967689A>C (hg19) ; chr14:g.74500986A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5364T>G MANE Select	ENSP00000261978.4:p.Cys1788Trp
ENST00000261978.8:c.5364T>G	ENSP00000261978.4:p.Cys1788Trp
ENST00000553939.5:c.*143T>G	ENSP00000452110.1:n.*143T>G
ENST00000554861.1:n.582T>G
ENST00000556690.5:c.5232T>G	ENSP00000451477.1:p.Cys1744Trp
NM_000428.2:c.5364T>G	NP_000419.1:p.Cys1788Trp
XM_011536765.1:c.4983T>G	XP_011535067.1:p.Cys1661Trp
XM_011536766.1:c.4905T>G	XP_011535068.1:p.Cys1635Trp
XM_011536767.1:c.4881T>G	XP_011535069.1:p.Cys1627Trp
XM_011536765.2:c.4983T>G	XP_011535067.1:p.Cys1661Trp
NM_000428.3:c.5364T>G MANE Select	NP_000419.1:p.Cys1788Trp