Canonical Allele Identifier: CA7269125
Community Standard Title: NM_000428.3(LTBP2):c.3527-3C>A
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74508732G>T , CM000676.2:g.74508732G>T GRCh38
NC_000014.8:g.74975435G>T , CM000676.1:g.74975435G>T GRCh37
NC_000014.7:g.74045188G>T NCBI36
NG_021486.1:g.108600C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.3527-3C>A MANE Select NP_000419.1:n.3527-3C>A
ENST00000261978.9:c.3527-3C>A MANE Select ENSP00000261978.4:n.3527-3C>A
NM_000428.2:c.3527-3C>A NP_000419.1:n.3527-3C>A
ENST00000261978.8:c.3527-3C>A ENSP00000261978.4:n.3527-3C>A
ENST00000553939.5:c.3527-3C>A ENSP00000452110.1:n.3527-3C>A
ENST00000556206.1:c.324-3C>A
ENST00000556690.5:c.3527-3C>A ENSP00000451477.1:n.3527-3C>A
XM_011536765.1:c.3146-3C>A XP_011535067.1:n.3146-3C>A
XM_011536765.2:c.3146-3C>A XP_011535067.1:n.3146-3C>A
XM_011536766.1:c.3068-3C>A XP_011535068.1:n.3068-3C>A
XM_011536767.1:c.3044-3C>A XP_011535069.1:n.3044-3C>A