Canonical Allele Identifier: CA254213

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 7557
• ClinVar RCV Id: RCV000007993
• dbSNP Id: rs121918356
• gnomAD v4: 14-74611614-G-A
• MyVariant Identifiers: chr14:g.75078317G>A (hg19) ; chr14:g.74611614G>A (hg38)
• PubMed: PMID:19361779

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74611614G>A , CM000676.2:g.74611614G>A	GRCh38
NC_000014.8:g.75078317G>A , CM000676.1:g.75078317G>A	GRCh37
NC_000014.7:g.74148070G>A	NCBI36
NG_021486.1:g.5718C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.331C>T MANE Select	ENSP00000261978.4:p.Gln111Ter
ENST00000261978.8:c.331C>T	ENSP00000261978.4:p.Gln111Ter
ENST00000553939.5:c.331C>T	ENSP00000452110.1:p.Gln111Ter
ENST00000556690.5:c.331C>T	ENSP00000451477.1:p.Gln111Ter
ENST00000557425.1:n.123+432C>T
NM_000428.2:c.331C>T	NP_000419.1:p.Gln111Ter
XM_011536765.1:c.331C>T	XP_011535067.1:p.Gln111Ter
XM_011536767.1:c.11+6970C>T	XP_011535069.1:n.11+6970C>T
XM_011536765.2:c.331C>T	XP_011535067.1:p.Gln111Ter
NM_000428.3:c.331C>T MANE Select	NP_000419.1:p.Gln111Ter