Canonical Allele Identifier: CA390382064

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967684T>G (hg19) ; chr14:g.74500981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500981T>G , CM000676.2:g.74500981T>G	GRCh38
NC_000014.8:g.74967684T>G , CM000676.1:g.74967684T>G	GRCh37
NC_000014.7:g.74037437T>G	NCBI36
NG_021486.1:g.116351A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5369A>C MANE Select	ENSP00000261978.4:p.His1790Pro
ENST00000261978.8:c.5369A>C	ENSP00000261978.4:p.His1790Pro
ENST00000553939.5:c.*148A>C	ENSP00000452110.1:n.*148A>C
ENST00000554861.1:n.587A>C
ENST00000556690.5:c.5237A>C	ENSP00000451477.1:p.His1746Pro
NM_000428.2:c.5369A>C	NP_000419.1:p.His1790Pro
XM_011536765.1:c.4988A>C	XP_011535067.1:p.His1663Pro
XM_011536766.1:c.4910A>C	XP_011535068.1:p.His1637Pro
XM_011536767.1:c.4886A>C	XP_011535069.1:p.His1629Pro
XM_011536765.2:c.4988A>C	XP_011535067.1:p.His1663Pro
NM_000428.3:c.5369A>C MANE Select	NP_000419.1:p.His1790Pro