Canonical Allele Identifier: CA390387948

Gene: LTBP2

Linked Data

• gnomAD v4: 14-74611620-C-T
• MyVariant Identifiers: chr14:g.75078323C>T (hg19) ; chr14:g.74611620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74611620C>T , CM000676.2:g.74611620C>T	GRCh38
NC_000014.8:g.75078323C>T , CM000676.1:g.75078323C>T	GRCh37
NC_000014.7:g.74148076C>T	NCBI36
NG_021486.1:g.5712G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.325G>A MANE Select	ENSP00000261978.4:p.Ala109Thr
ENST00000261978.8:c.325G>A	ENSP00000261978.4:p.Ala109Thr
ENST00000553939.5:c.325G>A	ENSP00000452110.1:p.Ala109Thr
ENST00000556690.5:c.325G>A	ENSP00000451477.1:p.Ala109Thr
ENST00000557425.1:n.123+426G>A
NM_000428.2:c.325G>A	NP_000419.1:p.Ala109Thr
XM_011536765.1:c.325G>A	XP_011535067.1:p.Ala109Thr
XM_011536767.1:c.11+6964G>A	XP_011535069.1:n.11+6964G>A
XM_011536765.2:c.325G>A	XP_011535067.1:p.Ala109Thr
NM_000428.3:c.325G>A MANE Select	NP_000419.1:p.Ala109Thr