Canonical Allele Identifier: CA487155784

Gene: LTBP2

Linked Data

• gnomAD v4: 14-74501010-G-A
• MyVariant Identifiers: chr14:g.74967713G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74501010G>A , CM000676.2:g.74501010G>A	GRCh38
NC_000014.8:g.74967713G>A , CM000676.1:g.74967713G>A	GRCh37
NC_000014.7:g.74037466G>A	NCBI36
NG_021486.1:g.116322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5340C>T MANE Select	ENSP00000261978.4:p.Asp1780=
ENST00000261978.8:c.5340C>T	ENSP00000261978.4:p.Asp1780=
ENST00000553939.5:c.*119C>T	ENSP00000452110.1:n.*119C>T
ENST00000554861.1:n.558C>T
ENST00000556690.5:c.5208C>T	ENSP00000451477.1:p.Asp1736=
NM_000428.2:c.5340C>T	NP_000419.1:p.Asp1780=
XM_011536765.1:c.4959C>T	XP_011535067.1:p.Asp1653=
XM_011536766.1:c.4881C>T	XP_011535068.1:p.Asp1627=
XM_011536767.1:c.4857C>T	XP_011535069.1:p.Asp1619=
XM_011536765.2:c.4959C>T	XP_011535067.1:p.Asp1653=
NM_000428.3:c.5340C>T MANE Select	NP_000419.1:p.Asp1780=