Canonical Allele Identifier: CA390382046

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967681C>A (hg19) ; chr14:g.74500978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500978C>A , CM000676.2:g.74500978C>A	GRCh38
NC_000014.8:g.74967681C>A , CM000676.1:g.74967681C>A	GRCh37
NC_000014.7:g.74037434C>A	NCBI36
NG_021486.1:g.116354G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5372G>T MANE Select	ENSP00000261978.4:p.Gly1791Val
ENST00000261978.8:c.5372G>T	ENSP00000261978.4:p.Gly1791Val
ENST00000553939.5:c.*151G>T	ENSP00000452110.1:n.*151G>T
ENST00000554861.1:n.590G>T
ENST00000556690.5:c.5240G>T	ENSP00000451477.1:p.Gly1747Val
NM_000428.2:c.5372G>T	NP_000419.1:p.Gly1791Val
XM_011536765.1:c.4991G>T	XP_011535067.1:p.Gly1664Val
XM_011536766.1:c.4913G>T	XP_011535068.1:p.Gly1638Val
XM_011536767.1:c.4889G>T	XP_011535069.1:p.Gly1630Val
XM_011536765.2:c.4991G>T	XP_011535067.1:p.Gly1664Val
NM_000428.3:c.5372G>T MANE Select	NP_000419.1:p.Gly1791Val