Canonical Allele Identifier: CA3395256
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2050394
ClinVar RCV Id: RCV002914492
dbSNP Id: rs750707662
ExAC: 5:127674766 G / T
gnomAD v2: 5-127674766-G-T
gnomAD v3: 5-128339074-G-T
gnomAD v4: 5-128339074-G-T
MyVariant Identifiers: chr5:g.127674766G>T (hg19) chr5:g.128339074G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128339074G>T , CM000667.2:g.128339074G>T GRCh38
NC_000005.9:g.127674766G>T , CM000667.1:g.127674766G>T GRCh37
NC_000005.8:g.127702665G>T NCBI36
NG_008750.1:g.203970C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.115C>A
ENST00000703785.1:n.196C>A
ENST00000262464.9:c.3344-13C>A MANE Select ENSP00000262464.4:n.3344-13C>A
ENST00000262464.8:c.3344-13C>A ENSP00000262464.4:n.3344-13C>A
ENST00000507835.5:c.-120C>A ENSP00000426839.1:n.-120C>A
ENST00000508053.5:c.3344-13C>A ENSP00000424571.1:n.3344-13C>A
ENST00000508989.5:c.3245-13C>A ENSP00000425596.1:n.3245-13C>A
ENST00000619499.4:c.3341-13C>A ENSP00000482132.1:n.3341-13C>A
NM_001999.3:c.3344-13C>A NP_001990.2:n.3344-13C>A
XM_017009228.2:c.3191-13C>A XP_016864717.1:n.3191-13C>A
NM_001999.4:c.3344-13C>A MANE Select NP_001990.2:n.3344-13C>A
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