Canonical Allele Identifier: CA2147075265
Community Standard Title: NM_000428.3(LTBP2):c.4313G= (p.Cys1438=)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74505039C= , CM000676.2:g.74505039C= GRCh38
NC_000014.8:g.74971742C= , CM000676.1:g.74971742C= GRCh37
NC_000014.7:g.74041495C= NCBI36
NG_021486.1:g.112293G=

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.4313G= MANE Select NP_000419.1:p.Cys1438=
ENST00000261978.9:c.4313G= MANE Select ENSP00000261978.4:p.Cys1438=
NM_000428.2:c.4313G= NP_000419.1:p.Cys1438=
ENST00000261978.8:c.4313G= ENSP00000261978.4:p.Cys1438=
ENST00000553939.5:c.4313G= ENSP00000452110.1:p.Cys1438=
ENST00000556690.5:c.4181G= ENSP00000451477.1:p.Cys1394=
XM_011536765.1:c.3932G= XP_011535067.1:p.Cys1311=
XM_011536765.2:c.3932G= XP_011535067.1:p.Cys1311=
XM_011536766.1:c.3854G= XP_011535068.1:p.Cys1285=
XM_011536767.1:c.3830G= XP_011535069.1:p.Cys1277=