Canonical Allele Identifier: CA151343

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 126955
• ClinVar RCV Id: RCV000114812 ; RCV002514571
• dbSNP Id: rs137854863
• ExAC: 14:74971805 T / C
• gnomAD v2: 14-74971805-T-C
• gnomAD v3: 14-74505102-T-C
• gnomAD v4: 14-74505102-T-C
• MyVariant Identifiers: chr14:g.74971805T>C (hg19) ; chr14:g.74505102T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74505102T>C , CM000676.2:g.74505102T>C	GRCh38
NC_000014.8:g.74971805T>C , CM000676.1:g.74971805T>C	GRCh37
NC_000014.7:g.74041558T>C	NCBI36
NG_021486.1:g.112230A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.4250A>G MANE Select	ENSP00000261978.4:p.Gln1417Arg
ENST00000261978.8:c.4250A>G	ENSP00000261978.4:p.Gln1417Arg
ENST00000553939.5:c.4250A>G	ENSP00000452110.1:p.Gln1417Arg
ENST00000556690.5:c.4118A>G	ENSP00000451477.1:p.Gln1373Arg
NM_000428.2:c.4250A>G	NP_000419.1:p.Gln1417Arg
XM_011536765.1:c.3869A>G	XP_011535067.1:p.Gln1290Arg
XM_011536766.1:c.3791A>G	XP_011535068.1:p.Gln1264Arg
XM_011536767.1:c.3767A>G	XP_011535069.1:p.Gln1256Arg
XM_011536765.2:c.3869A>G	XP_011535067.1:p.Gln1290Arg
NM_000428.3:c.4250A>G MANE Select	NP_000419.1:p.Gln1417Arg