Canonical Allele Identifier: CA290860
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128376862G>A
GRCh37 chr5:g.127712555G>A
gnomAD v2:
5:127712555 G / A
gnomAD v3:
5:128376862 G / A
gnomAD v4:
chr5-128376862-G-A
Joint Max Group AF 0.00043173 (MID)
Genomes Max Group AF 0.00082542 (SAS)
Exomes Max Group AF 0.00045354 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128376862G>A , CM000667.2:g.128376862G>A GRCh38
NC_000005.9:g.127712555G>A , CM000667.1:g.127712555G>A GRCh37
NC_000005.8:g.127740454G>A NCBI36
NG_008750.1:g.166181C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.1850-9C>T MANE Select ENSP00000262464.4:n.1850-9C>T
ENST00000262464.8:c.1850-9C>T ENSP00000262464.4:n.1850-9C>T
ENST00000508053.5:c.1850-9C>T ENSP00000424571.1:n.1850-9C>T
ENST00000508989.5:c.1751-9C>T ENSP00000425596.1:n.1751-9C>T
ENST00000511489.1:n.71-9C>T
ENST00000619499.4:c.1847-9C>T ENSP00000482132.1:n.1847-9C>T
NM_001999.3:c.1850-9C>T NP_001990.2:n.1850-9C>T
XM_017009228.2:c.1697-9C>T XP_016864717.1:n.1697-9C>T
NM_001999.4:c.1850-9C>T MANE Select NP_001990.2:n.1850-9C>T
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