Canonical Allele Identifier: CA7269112
Community Standard Title: NM_000428.3(LTBP2):c.3589G>A (p.Gly1197Arg)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74508667C>T , CM000676.2:g.74508667C>T GRCh38
NC_000014.8:g.74975370C>T , CM000676.1:g.74975370C>T GRCh37
NC_000014.7:g.74045123C>T NCBI36
NG_021486.1:g.108665G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.3589G>A MANE Select NP_000419.1:p.Gly1197Arg
ENST00000261978.9:c.3589G>A MANE Select ENSP00000261978.4:p.Gly1197Arg
NM_000428.2:c.3589G>A NP_000419.1:p.Gly1197Arg
ENST00000261978.8:c.3589G>A ENSP00000261978.4:p.Gly1197Arg
ENST00000553939.5:c.3589G>A ENSP00000452110.1:p.Gly1197Arg
ENST00000556206.1:c.386G>A
ENST00000556690.5:c.3589G>A ENSP00000451477.1:p.Gly1197Arg
XM_011536765.1:c.3208G>A XP_011535067.1:p.Gly1070Arg
XM_011536765.2:c.3208G>A XP_011535067.1:p.Gly1070Arg
XM_011536766.1:c.3130G>A XP_011535068.1:p.Gly1044Arg
XM_011536767.1:c.3106G>A XP_011535069.1:p.Gly1036Arg