Canonical Allele Identifier: CA390388082
Community Standard Title: NM_000428.3(LTBP2):c.3589G>C (p.Gly1197Arg)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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