Canonical Allele Identifier: CA390384968
Gene: LTBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74503472T>G , CM000676.2:g.74503472T>G GRCh38
NC_000014.8:g.74970175T>G , CM000676.1:g.74970175T>G GRCh37
NC_000014.7:g.74039928T>G NCBI36
NG_021486.1:g.113860A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.4717A>C MANE Select ENSP00000261978.4:p.Thr1573Pro
ENST00000261978.8:c.4717A>C ENSP00000261978.4:p.Thr1573Pro
ENST00000553939.5:c.4717A>C ENSP00000452110.1:p.Thr1573Pro
ENST00000556690.5:c.4585A>C ENSP00000451477.1:p.Thr1529Pro
NM_000428.2:c.4717A>C NP_000419.1:p.Thr1573Pro
XM_011536765.1:c.4336A>C XP_011535067.1:p.Thr1446Pro
XM_011536766.1:c.4258A>C XP_011535068.1:p.Thr1420Pro
XM_011536767.1:c.4234A>C XP_011535069.1:p.Thr1412Pro
XM_011536765.2:c.4336A>C XP_011535067.1:p.Thr1446Pro
NM_000428.3:c.4717A>C MANE Select NP_000419.1:p.Thr1573Pro