Canonical Allele Identifier: CA7268676

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 2427811
• ClinVar RCV Id: RCV003114141 ; RCV004245948
• dbSNP Id: rs750269632
• ExAC: 14:74970199 G / A
• gnomAD v2: 14-74970199-G-A
• gnomAD v3: 14-74503496-G-A
• gnomAD v4: 14-74503496-G-A
• COSMIC: COSM1214074
• MyVariant Identifiers: chr14:g.74970199G>A (hg19) ; chr14:g.74503496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503496G>A , CM000676.2:g.74503496G>A	GRCh38
NC_000014.8:g.74970199G>A , CM000676.1:g.74970199G>A	GRCh37
NC_000014.7:g.74039952G>A	NCBI36
NG_021486.1:g.113836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4693C>T MANE Select	ENSP00000261978.4:p.Arg1565Cys
ENST00000261978.8:c.4693C>T	ENSP00000261978.4:p.Arg1565Cys
ENST00000553939.5:c.4693C>T	ENSP00000452110.1:p.Arg1565Cys
ENST00000556690.5:c.4561C>T	ENSP00000451477.1:p.Arg1521Cys
NM_000428.2:c.4693C>T	NP_000419.1:p.Arg1565Cys
XM_011536765.1:c.4312C>T	XP_011535067.1:p.Arg1438Cys
XM_011536766.1:c.4234C>T	XP_011535068.1:p.Arg1412Cys
XM_011536767.1:c.4210C>T	XP_011535069.1:p.Arg1404Cys
XM_011536765.2:c.4312C>T	XP_011535067.1:p.Arg1438Cys
NM_000428.3:c.4693C>T MANE Select	NP_000419.1:p.Arg1565Cys