Canonical Allele Identifier: CA390381819

Gene: LTBP2

Linked Data

• COSMIC: COSM6213269
• MyVariant Identifiers: chr14:g.74967604A>T (hg19) ; chr14:g.74500901A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500901A>T , CM000676.2:g.74500901A>T	GRCh38
NC_000014.8:g.74967604A>T , CM000676.1:g.74967604A>T	GRCh37
NC_000014.7:g.74037357A>T	NCBI36
NG_021486.1:g.116431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5449T>A MANE Select	ENSP00000261978.4:p.Cys1817Ser
ENST00000261978.8:c.5449T>A	ENSP00000261978.4:p.Cys1817Ser
ENST00000553939.5:c.*228T>A	ENSP00000452110.1:n.*228T>A
ENST00000554861.1:n.667T>A
ENST00000556690.5:c.5317T>A	ENSP00000451477.1:p.Cys1773Ser
NM_000428.2:c.5449T>A	NP_000419.1:p.Cys1817Ser
XM_011536765.1:c.5068T>A	XP_011535067.1:p.Cys1690Ser
XM_011536766.1:c.4990T>A	XP_011535068.1:p.Cys1664Ser
XM_011536767.1:c.4966T>A	XP_011535069.1:p.Cys1656Ser
XM_011536765.2:c.5068T>A	XP_011535067.1:p.Cys1690Ser
NM_000428.3:c.5449T>A MANE Select	NP_000419.1:p.Cys1817Ser