Canonical Allele Identifier: CA207753
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128336022T>C
GRCh37 chr5:g.127671714T>C
gnomAD v2:
5:127671714 T / C
gnomAD v3:
5:128336022 T / C
gnomAD v4:
chr5-128336022-T-C
Joint Max Group AF 0.00003069 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00002743 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128336022T>C , CM000667.2:g.128336022T>C GRCh38
NC_000005.9:g.127671714T>C , CM000667.1:g.127671714T>C GRCh37
NC_000005.8:g.127699613T>C NCBI36
NG_008750.1:g.207022A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.474A>G
ENST00000703785.1:n.555A>G
ENST00000262464.9:c.3690A>G MANE Select ENSP00000262464.4:p.Gly1230=
ENST00000262464.8:c.3690A>G ENSP00000262464.4:p.Gly1230=
ENST00000507835.5:c.240A>G ENSP00000426839.1:p.Gly80=
ENST00000508053.5:c.3690A>G ENSP00000424571.1:p.Gly1230=
ENST00000508989.5:c.3591A>G ENSP00000425596.1:p.Gly1197=
ENST00000619499.4:c.3687A>G ENSP00000482132.1:p.Gly1229=
NM_001999.3:c.3690A>G NP_001990.2:p.Gly1230=
XM_017009228.2:c.3537A>G XP_016864717.1:p.Gly1179=
NM_001999.4:c.3690A>G MANE Select NP_001990.2:p.Gly1230=
Search 100 bp 5'
Search 100 bp 3'