Canonical Allele Identifier: CA151343
Gene: LTBP2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.74505102T>C
GRCh37 chr14:g.74971805T>C
Revel Score:
ENST00000261978 (MANE Select) 0.138
ENST00000556690 0.138
gnomAD v2:
14:74971805 T / C
gnomAD v3:
14:74505102 T / C
gnomAD v4:
chr14-74505102-T-C
Joint Max Group AF 0.0002555 (SAS)
Exomes Max Group AF 0.00025981 (SAS)
ClinVar RCV:
RCV000114812
RCV002514571
ClinVar Variation:
126955
dbSNP:
137854863
JSON-LD

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
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