Canonical Allele Identifier: CA390382059

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967683A>T (hg19) ; chr14:g.74500980A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500980A>T , CM000676.2:g.74500980A>T	GRCh38
NC_000014.8:g.74967683A>T , CM000676.1:g.74967683A>T	GRCh37
NC_000014.7:g.74037436A>T	NCBI36
NG_021486.1:g.116352T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5370T>A MANE Select	ENSP00000261978.4:p.His1790Gln
ENST00000261978.8:c.5370T>A	ENSP00000261978.4:p.His1790Gln
ENST00000553939.5:c.*149T>A	ENSP00000452110.1:n.*149T>A
ENST00000554861.1:n.588T>A
ENST00000556690.5:c.5238T>A	ENSP00000451477.1:p.His1746Gln
NM_000428.2:c.5370T>A	NP_000419.1:p.His1790Gln
XM_011536765.1:c.4989T>A	XP_011535067.1:p.His1663Gln
XM_011536766.1:c.4911T>A	XP_011535068.1:p.His1637Gln
XM_011536767.1:c.4887T>A	XP_011535069.1:p.His1629Gln
XM_011536765.2:c.4989T>A	XP_011535067.1:p.His1663Gln
NM_000428.3:c.5370T>A MANE Select	NP_000419.1:p.His1790Gln