Canonical Allele Identifier: CA151349
Gene: LTBP2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.74502911C>T
GRCh37 chr14:g.74969614C>T
Revel Score:
ENST00000261978 (MANE Select) 0.404
ENST00000556690 0.404
gnomAD v2:
14:74969614 C / T
gnomAD v3:
14:74502911 C / T
gnomAD v4:
chr14-74502911-C-T
Joint Max Group AF 0.00096474 (AFR)
Genomes Max Group AF 0.00085461 (AFR)
Exomes Max Group AF 0.00092839 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74502911C>T , CM000676.2:g.74502911C>T GRCh38
NC_000014.8:g.74969614C>T , CM000676.1:g.74969614C>T GRCh37
NC_000014.7:g.74039367C>T NCBI36
NG_021486.1:g.114421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.4912G>A MANE Select ENSP00000261978.4:p.Val1638Met
ENST00000261978.8:c.4912G>A ENSP00000261978.4:p.Val1638Met
ENST00000553939.5:c.4912G>A ENSP00000452110.1:p.Val1638Met
ENST00000556690.5:c.4780G>A ENSP00000451477.1:p.Val1594Met
NM_000428.2:c.4912G>A NP_000419.1:p.Val1638Met
XM_011536765.1:c.4531G>A XP_011535067.1:p.Val1511Met
XM_011536766.1:c.4453G>A XP_011535068.1:p.Val1485Met
XM_011536767.1:c.4429G>A XP_011535069.1:p.Val1477Met
XM_011536765.2:c.4531G>A XP_011535067.1:p.Val1511Met
NM_000428.3:c.4912G>A MANE Select NP_000419.1:p.Val1638Met
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