Canonical Allele Identifier: CA390382065

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967685G>A (hg19) ; chr14:g.74500982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500982G>A , CM000676.2:g.74500982G>A	GRCh38
NC_000014.8:g.74967685G>A , CM000676.1:g.74967685G>A	GRCh37
NC_000014.7:g.74037438G>A	NCBI36
NG_021486.1:g.116350C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5368C>T MANE Select	ENSP00000261978.4:p.His1790Tyr
ENST00000261978.8:c.5368C>T	ENSP00000261978.4:p.His1790Tyr
ENST00000553939.5:c.*147C>T	ENSP00000452110.1:n.*147C>T
ENST00000554861.1:n.586C>T
ENST00000556690.5:c.5236C>T	ENSP00000451477.1:p.His1746Tyr
NM_000428.2:c.5368C>T	NP_000419.1:p.His1790Tyr
XM_011536765.1:c.4987C>T	XP_011535067.1:p.His1663Tyr
XM_011536766.1:c.4909C>T	XP_011535068.1:p.His1637Tyr
XM_011536767.1:c.4885C>T	XP_011535069.1:p.His1629Tyr
XM_011536765.2:c.4987C>T	XP_011535067.1:p.His1663Tyr
NM_000428.3:c.5368C>T MANE Select	NP_000419.1:p.His1790Tyr