Canonical Allele Identifier: CA286515

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 126952
• ClinVar RCV Id: RCV000114808
• dbSNP Id: rs137854855
• ExAC: 14:75017811 G / A
• gnomAD v2: 14-75017811-G-A
• gnomAD v4: 14-74551108-G-A
• COSMIC: COSM3793854
• MyVariant Identifiers: chr14:g.75017811G>A (hg19) ; chr14:g.74551108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74551108G>A , CM000676.2:g.74551108G>A	GRCh38
NC_000014.8:g.75017811G>A , CM000676.1:g.75017811G>A	GRCh37
NC_000014.7:g.74087564G>A	NCBI36
NG_021486.1:g.66224C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.1642C>T MANE Select	ENSP00000261978.4:p.Arg548Ter
ENST00000261978.8:c.1642C>T	ENSP00000261978.4:p.Arg548Ter
ENST00000553939.5:c.1642C>T	ENSP00000452110.1:p.Arg548Ter
ENST00000556690.5:c.1642C>T	ENSP00000451477.1:p.Arg548Ter
ENST00000557425.1:n.366C>T
NM_000428.2:c.1642C>T	NP_000419.1:p.Arg548Ter
XM_011536765.1:c.1642C>T	XP_011535067.1:p.Arg548Ter
XM_011536766.1:c.1183C>T	XP_011535068.1:p.Arg395Ter
XM_011536767.1:c.1159C>T	XP_011535069.1:p.Arg387Ter
XM_011536765.2:c.1642C>T	XP_011535067.1:p.Arg548Ter
NM_000428.3:c.1642C>T MANE Select	NP_000419.1:p.Arg548Ter