Canonical Allele Identifier: CA10640921

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 314266
• ClinVar RCV Id: RCV000271643 ; RCV000307991
• dbSNP Id: rs886050754
• gnomAD v2: 14-74968194-C-A
• gnomAD v3: 14-74501491-C-A
• gnomAD v4: 14-74501491-C-A
• MyVariant Identifiers: chr14:g.74968194C>A (hg19) ; chr14:g.74501491C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74501491C>A , CM000676.2:g.74501491C>A	GRCh38
NC_000014.8:g.74968194C>A , CM000676.1:g.74968194C>A	GRCh37
NC_000014.7:g.74037947C>A	NCBI36
NG_021486.1:g.115841G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5270G>T MANE Select	ENSP00000261978.4:p.Cys1757Phe
ENST00000261978.8:c.5270G>T	ENSP00000261978.4:p.Cys1757Phe
ENST00000553939.5:c.*49G>T	ENSP00000452110.1:n.*49G>T
ENST00000554861.1:n.488G>T
ENST00000556690.5:c.5138G>T	ENSP00000451477.1:p.Cys1713Phe
NM_000428.2:c.5270G>T	NP_000419.1:p.Cys1757Phe
XM_011536765.1:c.4889G>T	XP_011535067.1:p.Cys1630Phe
XM_011536766.1:c.4811G>T	XP_011535068.1:p.Cys1604Phe
XM_011536767.1:c.4787G>T	XP_011535069.1:p.Cys1596Phe
XM_011536765.2:c.4889G>T	XP_011535067.1:p.Cys1630Phe
NM_000428.3:c.5270G>T MANE Select	NP_000419.1:p.Cys1757Phe