Canonical Allele Identifier: CA2147073459

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500987_74500989delinsCAG , CM000676.2:g.74500987_74500989delinsCAG	GRCh38
NC_000014.8:g.74967690_74967692delinsCAG , CM000676.1:g.74967690_74967692delinsCAG	GRCh37
NC_000014.7:g.74037443_74037445delinsCAG	NCBI36
NG_021486.1:g.116343_116345delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5361_5363delinsCTG MANE Select	ENSP00000261978.4:p.Leu1787=
ENST00000261978.8:c.5361_5363delinsCTG	ENSP00000261978.4:p.Leu1787=
ENST00000553939.5:c.*140_*142delinsCTG	ENSP00000452110.1:n.*140_*142delinsCTG
ENST00000554861.1:n.579_581delinsCTG
ENST00000556690.5:c.5229_5231delinsCTG	ENSP00000451477.1:p.Leu1743=
NM_000428.2:c.5361_5363delinsCTG	NP_000419.1:p.Leu1787=
XM_011536765.1:c.4980_4982delinsCTG	XP_011535067.1:p.Leu1660=
XM_011536766.1:c.4902_4904delinsCTG	XP_011535068.1:p.Leu1634=
XM_011536767.1:c.4878_4880delinsCTG	XP_011535069.1:p.Leu1626=
XM_011536765.2:c.4980_4982delinsCTG	XP_011535067.1:p.Leu1660=
NM_000428.3:c.5361_5363delinsCTG MANE Select	NP_000419.1:p.Leu1787=