Canonical Allele Identifier: CA3396130
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128530669T>C
GRCh37 chr5:g.127866362T>C
Revel Score:
ENST00000262464 (MANE Select) 0.730
ENST00000508053 0.730
ENST00000502468 0.730
gnomAD v2:
5:127866362 T / C
gnomAD v4:
chr5-128530669-T-C
Joint Max Group AF 0.00139751 (MID)
Exomes Max Group AF 0.0014685 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128530669T>C , CM000667.2:g.128530669T>C GRCh38
NC_000005.9:g.127866362T>C , CM000667.1:g.127866362T>C GRCh37
NC_000005.8:g.127894261T>C NCBI36
NG_008750.1:g.12374A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000508053.6:c.362A>G ENSP00000424571.2:p.Asp121Gly
ENST00000703787.1:n.69A>G
ENST00000262464.9:c.362A>G MANE Select ENSP00000262464.4:p.Asp121Gly
ENST00000262464.8:c.362A>G ENSP00000262464.4:p.Asp121Gly
ENST00000502468.5:c.362A>G ENSP00000424753.1:p.Asp121Gly
ENST00000508053.5:c.362A>G ENSP00000424571.1:p.Asp121Gly
ENST00000508989.5:c.338-2702A>G ENSP00000425596.1:n.338-2702A>G
ENST00000514742.1:n.982A>G
ENST00000619499.4:c.362A>G ENSP00000482132.1:p.Asp121Gly
ENST00000620257.1:c.362A>G ENSP00000479157.1:p.Asp121Gly
NM_001999.3:c.362A>G NP_001990.2:p.Asp121Gly
XM_017009228.2:c.362A>G XP_016864717.1:p.Asp121Gly
NM_001999.4:c.362A>G MANE Select NP_001990.2:p.Asp121Gly
Search 100 bp 5'
Search 100 bp 3'