Canonical Allele Identifier: CA390382063

Gene: LTBP2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5369A>G MANE Select	ENSP00000261978.4:p.His1790Arg
ENST00000261978.8:c.5369A>G	ENSP00000261978.4:p.His1790Arg
ENST00000553939.5:c.*148A>G	ENSP00000452110.1:n.*148A>G
ENST00000554861.1:n.587A>G
ENST00000556690.5:c.5237A>G	ENSP00000451477.1:p.His1746Arg
NM_000428.2:c.5369A>G	NP_000419.1:p.His1790Arg
XM_011536765.1:c.4988A>G	XP_011535067.1:p.His1663Arg
XM_011536766.1:c.4910A>G	XP_011535068.1:p.His1637Arg
XM_011536767.1:c.4886A>G	XP_011535069.1:p.His1629Arg
XM_011536765.2:c.4988A>G	XP_011535067.1:p.His1663Arg
NM_000428.3:c.5369A>G MANE Select	NP_000419.1:p.His1790Arg