Canonical Allele Identifier: CA2147075359
Community Standard Title: NM_000428.3(LTBP2):c.4250A= (p.Gln1417=)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74505102T= , CM000676.2:g.74505102T= GRCh38
NC_000014.8:g.74971805T= , CM000676.1:g.74971805T= GRCh37
NC_000014.7:g.74041558T= NCBI36
NG_021486.1:g.112230A=

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.4250A= MANE Select NP_000419.1:p.Gln1417=
ENST00000261978.9:c.4250A= MANE Select ENSP00000261978.4:p.Gln1417=
NM_000428.2:c.4250A= NP_000419.1:p.Gln1417=
ENST00000261978.8:c.4250A= ENSP00000261978.4:p.Gln1417=
ENST00000553939.5:c.4250A= ENSP00000452110.1:p.Gln1417=
ENST00000556690.5:c.4118A= ENSP00000451477.1:p.Gln1373=
XM_011536765.1:c.3869A= XP_011535067.1:p.Gln1290=
XM_011536765.2:c.3869A= XP_011535067.1:p.Gln1290=
XM_011536766.1:c.3791A= XP_011535068.1:p.Gln1264=
XM_011536767.1:c.3767A= XP_011535069.1:p.Gln1256=