Canonical Allele Identifier: CA322825
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128338963T>C
GRCh37 chr5:g.127674655T>C
Revel Score:
ENST00000262464 (MANE Select) 0.676
ENST00000508053 0.676
ENST00000508989 0.676
gnomAD v2:
5:127674655 T / C
gnomAD v3:
5:128338963 T / C
gnomAD v4:
chr5-128338963-T-C
Joint Max Group AF 0.00001221 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338963T>C , CM000667.2:g.128338963T>C GRCh38
NC_000005.9:g.127674655T>C , CM000667.1:g.127674655T>C GRCh37
NC_000005.8:g.127702554T>C NCBI36
NG_008750.1:g.204081A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.226A>G
ENST00000703785.1:n.307A>G
ENST00000262464.9:c.3442A>G MANE Select ENSP00000262464.4:p.Ser1148Gly
ENST00000262464.8:c.3442A>G ENSP00000262464.4:p.Ser1148Gly
ENST00000507835.5:c.-9A>G ENSP00000426839.1:n.-9A>G
ENST00000508053.5:c.3442A>G ENSP00000424571.1:p.Ser1148Gly
ENST00000508989.5:c.3343A>G ENSP00000425596.1:p.Ser1115Gly
ENST00000619499.4:c.3439A>G ENSP00000482132.1:p.Ser1147Gly
NM_001999.3:c.3442A>G NP_001990.2:p.Ser1148Gly
XM_017009228.2:c.3289A>G XP_016864717.1:p.Ser1097Gly
NM_001999.4:c.3442A>G MANE Select NP_001990.2:p.Ser1148Gly
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