Canonical Allele Identifier: CA390400907

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74552388A>T , CM000676.2:g.74552388A>T	GRCh38
NC_000014.8:g.75019091A>T , CM000676.1:g.75019091A>T	GRCh37
NC_000014.7:g.74088844A>T	NCBI36
NG_021486.1:g.64944T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.1198T>A MANE Select	NP_000419.1:p.Cys400Ser
ENST00000261978.9:c.1198T>A MANE Select	ENSP00000261978.4:p.Cys400Ser
NM_000428.2:c.1198T>A	NP_000419.1:p.Cys400Ser
ENST00000261978.8:c.1198T>A	ENSP00000261978.4:p.Cys400Ser
ENST00000553939.5:c.1198T>A	ENSP00000452110.1:p.Cys400Ser
ENST00000556690.5:c.1198T>A	ENSP00000451477.1:p.Cys400Ser
ENST00000557425.1:n.124-1038T>A
XM_011536765.1:c.1198T>A	XP_011535067.1:p.Cys400Ser
XM_011536765.2:c.1198T>A	XP_011535067.1:p.Cys400Ser
XM_011536766.1:c.739T>A	XP_011535068.1:p.Cys247Ser
XM_011536767.1:c.715T>A	XP_011535069.1:p.Cys239Ser