Canonical Allele Identifier: CA3206710085
Community Standard Title: NM_000428.3(LTBP2):c.5376C= (p.Tyr1792=)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74500974G= , CM000676.2:g.74500974G= GRCh38
NC_000014.8:g.74967677G= , CM000676.1:g.74967677G= GRCh37
NC_000014.7:g.74037430G= NCBI36
NG_021486.1:g.116358C=

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.5376C= MANE Select NP_000419.1:p.Tyr1792=
ENST00000261978.9:c.5376C= MANE Select ENSP00000261978.4:p.Tyr1792=
NM_000428.2:c.5376C= NP_000419.1:p.Tyr1792=
ENST00000261978.8:c.5376C= ENSP00000261978.4:p.Tyr1792=
ENST00000553939.5:c.*155C= ENSP00000452110.1:n.*155C=
ENST00000554861.1:n.594C=
ENST00000556690.5:c.5244C= ENSP00000451477.1:p.Tyr1748=
XM_011536765.1:c.4995C= XP_011535067.1:p.Tyr1665=
XM_011536765.2:c.4995C= XP_011535067.1:p.Tyr1665=
XM_011536766.1:c.4917C= XP_011535068.1:p.Tyr1639=
XM_011536767.1:c.4893C= XP_011535069.1:p.Tyr1631=