Canonical Allele Identifier: CA2147073454
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74500973_74500974delinsAG , CM000676.2:g.74500973_74500974delinsAG GRCh38
NC_000014.8:g.74967676_74967677delinsAG , CM000676.1:g.74967676_74967677delinsAG GRCh37
NC_000014.7:g.74037429_74037430delinsAG NCBI36
NG_021486.1:g.116358_116359delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000261978.9:c.5376_5377delinsCT MANE Select ENSP00000261978.4:p.Tyr1792=
ENST00000261978.8:c.5376_5377delinsCT ENSP00000261978.4:p.Tyr1792=
ENST00000553939.5:c.*155_*156delinsCT ENSP00000452110.1:n.*155_*156delinsCT
ENST00000554861.1:n.594_595delinsCT
ENST00000556690.5:c.5244_5245delinsCT ENSP00000451477.1:p.Tyr1748=
NM_000428.2:c.5376_5377delinsCT NP_000419.1:p.Tyr1792=
XM_011536765.1:c.4995_4996delinsCT XP_011535067.1:p.Tyr1665=
XM_011536766.1:c.4917_4918delinsCT XP_011535068.1:p.Tyr1639=
XM_011536767.1:c.4893_4894delinsCT XP_011535069.1:p.Tyr1631=
XM_011536765.2:c.4995_4996delinsCT XP_011535067.1:p.Tyr1665=
NM_000428.3:c.5376_5377delinsCT MANE Select NP_000419.1:p.Tyr1792=