Canonical Allele Identifier: CA7269243
Gene: LTBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314284
ClinVar RCV Id: RCV000298388 RCV000396946 RCV001579615 RCV001527998
dbSNP Id: rs61505039
ExAC: 14:74976452 C / T
gnomAD v2: 14-74976452-C-T
gnomAD v3: 14-74509749-C-T
gnomAD v4: 14-74509749-C-T
MyVariant Identifiers: chr14:g.74976452C>T (hg19) chr14:g.74509749C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74509749C>T , CM000676.2:g.74509749C>T GRCh38
NC_000014.8:g.74976452C>T , CM000676.1:g.74976452C>T GRCh37
NC_000014.7:g.74046205C>T NCBI36
NG_021486.1:g.107583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.3262G>A MANE Select ENSP00000261978.4:p.Gly1088Ser
ENST00000261978.8:c.3262G>A ENSP00000261978.4:p.Gly1088Ser
ENST00000553939.5:c.3262G>A ENSP00000452110.1:p.Gly1088Ser
ENST00000556206.1:c.59G>A
ENST00000556690.5:c.3262G>A ENSP00000451477.1:p.Gly1088Ser
NM_000428.2:c.3262G>A NP_000419.1:p.Gly1088Ser
XM_011536765.1:c.2881G>A XP_011535067.1:p.Gly961Ser
XM_011536766.1:c.2803G>A XP_011535068.1:p.Gly935Ser
XM_011536767.1:c.2779G>A XP_011535069.1:p.Gly927Ser
XM_011536765.2:c.2881G>A XP_011535067.1:p.Gly961Ser
NM_000428.3:c.3262G>A MANE Select NP_000419.1:p.Gly1088Ser
Search 100 bp 5'
Search 100 bp 3'