Canonical Allele Identifier: CA390382066

Gene: LTBP2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5368C>A MANE Select	ENSP00000261978.4:p.His1790Asn
ENST00000261978.8:c.5368C>A	ENSP00000261978.4:p.His1790Asn
ENST00000553939.5:c.*147C>A	ENSP00000452110.1:n.*147C>A
ENST00000554861.1:n.586C>A
ENST00000556690.5:c.5236C>A	ENSP00000451477.1:p.His1746Asn
NM_000428.2:c.5368C>A	NP_000419.1:p.His1790Asn
XM_011536765.1:c.4987C>A	XP_011535067.1:p.His1663Asn
XM_011536766.1:c.4909C>A	XP_011535068.1:p.His1637Asn
XM_011536767.1:c.4885C>A	XP_011535069.1:p.His1629Asn
XM_011536765.2:c.4987C>A	XP_011535067.1:p.His1663Asn
NM_000428.3:c.5368C>A MANE Select	NP_000419.1:p.His1790Asn