Canonical Allele Identifier: CA15389872
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128305169A>G
GRCh37 chr5:g.127640861A>G
gnomAD v2:
5:127640861 A / G
gnomAD v3:
5:128305169 A / G
gnomAD v4:
chr5-128305169-A-G
Joint Max Group AF 0.80363458 (EAS)
Genomes Max Group AF 0.78465827 (EAS)
Exomes Max Group AF 0.80400721 (EAS)
ClinVar RCV:
RCV000830179
ClinVar Variation:
671004
dbSNP:
27855
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305169A>G , CM000667.2:g.128305169A>G GRCh38
NC_000005.9:g.127640861A>G , CM000667.1:g.127640861A>G GRCh37
NC_000005.8:g.127668760A>G NCBI36
NG_008750.1:g.237875T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2459-87T>C
ENST00000703785.1:n.2378-87T>C
ENST00000262464.9:c.5675-87T>C MANE Select ENSP00000262464.4:n.5675-87T>C
ENST00000262464.8:c.5675-87T>C ENSP00000262464.4:n.5675-87T>C
ENST00000508053.5:c.5675-87T>C ENSP00000424571.1:n.5675-87T>C
ENST00000619499.4:c.5672-87T>C ENSP00000482132.1:n.5672-87T>C
NM_001999.3:c.5675-87T>C NP_001990.2:n.5675-87T>C
XM_017009228.2:c.5522-87T>C XP_016864717.1:n.5522-87T>C
NM_001999.4:c.5675-87T>C MANE Select NP_001990.2:n.5675-87T>C
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