Canonical Allele Identifier: CA7269106
Community Standard Title: NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74508645G>A , CM000676.2:g.74508645G>A GRCh38
NC_000014.8:g.74975348G>A , CM000676.1:g.74975348G>A GRCh37
NC_000014.7:g.74045101G>A NCBI36
NG_021486.1:g.108687C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.3611C>T MANE Select NP_000419.1:p.Ala1204Val
ENST00000261978.9:c.3611C>T MANE Select ENSP00000261978.4:p.Ala1204Val
NM_000428.2:c.3611C>T NP_000419.1:p.Ala1204Val
ENST00000261978.8:c.3611C>T ENSP00000261978.4:p.Ala1204Val
ENST00000553939.5:c.3611C>T ENSP00000452110.1:p.Ala1204Val
ENST00000556206.1:c.408C>T
ENST00000556690.5:c.3611C>T ENSP00000451477.1:p.Ala1204Val
XM_011536765.1:c.3230C>T XP_011535067.1:p.Ala1077Val
XM_011536765.2:c.3230C>T XP_011535067.1:p.Ala1077Val
XM_011536766.1:c.3152C>T XP_011535068.1:p.Ala1051Val
XM_011536767.1:c.3128C>T XP_011535069.1:p.Ala1043Val