Canonical Allele Identifier: CA390382037

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967678T>A (hg19) ; chr14:g.74500975T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500975T>A , CM000676.2:g.74500975T>A	GRCh38
NC_000014.8:g.74967678T>A , CM000676.1:g.74967678T>A	GRCh37
NC_000014.7:g.74037431T>A	NCBI36
NG_021486.1:g.116357A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5375A>T MANE Select	ENSP00000261978.4:p.Tyr1792Phe
ENST00000261978.8:c.5375A>T	ENSP00000261978.4:p.Tyr1792Phe
ENST00000553939.5:c.*154A>T	ENSP00000452110.1:n.*154A>T
ENST00000554861.1:n.593A>T
ENST00000556690.5:c.5243A>T	ENSP00000451477.1:p.Tyr1748Phe
NM_000428.2:c.5375A>T	NP_000419.1:p.Tyr1792Phe
XM_011536765.1:c.4994A>T	XP_011535067.1:p.Tyr1665Phe
XM_011536766.1:c.4916A>T	XP_011535068.1:p.Tyr1639Phe
XM_011536767.1:c.4892A>T	XP_011535069.1:p.Tyr1631Phe
XM_011536765.2:c.4994A>T	XP_011535067.1:p.Tyr1665Phe
NM_000428.3:c.5375A>T MANE Select	NP_000419.1:p.Tyr1792Phe