Canonical Allele Identifier: CA269734
Gene: LTBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126959
ClinVar RCV Id: RCV000007996 RCV000114816
dbSNP Id: rs137854895
MyVariant Identifiers: chr14:g.74967677del (hg19) chr14:g.74500974del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74500974del , CM000676.2:g.74500974del GRCh38
NC_000014.8:g.74967677del , CM000676.1:g.74967677del GRCh37
NC_000014.7:g.74037430del NCBI36
NG_021486.1:g.116358del

Transcript Alleles

HGVS Amino-acid change
ENST00000261978.9:c.5376del MANE Select ENSP00000261978.4:p.Cys1793AlafsTer?
ENST00000261978.8:c.5376del ENSP00000261978.4:p.Cys1793AlafsTer?
ENST00000553939.5:c.*155del ENSP00000452110.1:n.*155del
ENST00000554861.1:n.594del
ENST00000556690.5:c.5244del ENSP00000451477.1:p.Cys1749AlafsTer?
NM_000428.2:c.5376del NP_000419.1:p.Cys1793AlafsTer?
XM_011536765.1:c.4995del XP_011535067.1:p.Cys1666AlafsTer?
XM_011536766.1:c.4917del XP_011535068.1:p.Cys1640AlafsTer?
XM_011536767.1:c.4893del XP_011535069.1:p.Cys1632AlafsTer?
XM_011536765.2:c.4995del XP_011535067.1:p.Cys1666AlafsTer?
NM_000428.3:c.5376del MANE Select NP_000419.1:p.Cys1793AlafsTer?
Search 100 bp 5'
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