Canonical Allele Identifier: CA320889
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128330672T>C
GRCh37 chr5:g.127666364T>C
Revel Score:
ENST00000262464 (MANE Select) 0.533
ENST00000508053 0.533
ENST00000507835 0.533
ENST00000508989 0.533
gnomAD v2:
5:127666364 T / C
gnomAD v3:
5:128330672 T / C
gnomAD v4:
chr5-128330672-T-C
Joint Max Group AF 0.00047457 (NFE)
Genomes Max Group AF 0.00024283 (NFE)
Exomes Max Group AF 0.00050169 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330672T>C , CM000667.2:g.128330672T>C GRCh38
NC_000005.9:g.127666364T>C , CM000667.1:g.127666364T>C GRCh37
NC_000005.8:g.127694263T>C NCBI36
NG_008750.1:g.212372A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1030A>G
ENST00000703785.1:n.1111A>G
ENST00000262464.9:c.4246A>G MANE Select ENSP00000262464.4:p.Thr1416Ala
ENST00000262464.8:c.4246A>G ENSP00000262464.4:p.Thr1416Ala
ENST00000507835.5:c.796A>G ENSP00000426839.1:p.Thr266Ala
ENST00000508053.5:c.4246A>G ENSP00000424571.1:p.Thr1416Ala
ENST00000508989.5:c.4147A>G ENSP00000425596.1:p.Thr1383Ala
ENST00000619499.4:c.4243A>G ENSP00000482132.1:p.Thr1415Ala
NM_001999.3:c.4246A>G NP_001990.2:p.Thr1416Ala
XM_017009228.2:c.4093A>G XP_016864717.1:p.Thr1365Ala
NM_001999.4:c.4246A>G MANE Select NP_001990.2:p.Thr1416Ala
Search 100 bp 5'
Search 100 bp 3'