Canonical Allele Identifier: CA263606214
Gene: LTBP2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.74551108G>C
GRCh37 chr14:g.75017811G>C
Revel Score:
ENST00000261978 (MANE Select) 0.027
ENST00000556690 0.027
gnomAD v4:
chr14-74551108-G-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV001970553
ClinVar Variation:
1468023
dbSNP:
137854855
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74551108G>C , CM000676.2:g.74551108G>C GRCh38
NC_000014.8:g.75017811G>C , CM000676.1:g.75017811G>C GRCh37
NC_000014.7:g.74087564G>C NCBI36
NG_021486.1:g.66224C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.1642C>G MANE Select ENSP00000261978.4:p.Arg548Gly
ENST00000261978.8:c.1642C>G ENSP00000261978.4:p.Arg548Gly
ENST00000553939.5:c.1642C>G ENSP00000452110.1:p.Arg548Gly
ENST00000556690.5:c.1642C>G ENSP00000451477.1:p.Arg548Gly
ENST00000557425.1:n.366C>G
NM_000428.2:c.1642C>G NP_000419.1:p.Arg548Gly
XM_011536765.1:c.1642C>G XP_011535067.1:p.Arg548Gly
XM_011536766.1:c.1183C>G XP_011535068.1:p.Arg395Gly
XM_011536767.1:c.1159C>G XP_011535069.1:p.Arg387Gly
XM_011536765.2:c.1642C>G XP_011535067.1:p.Arg548Gly
NM_000428.3:c.1642C>G MANE Select NP_000419.1:p.Arg548Gly
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