Canonical Allele Identifier: CA3395103
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1018262
ClinVar RCV Id: RCV001317536
dbSNP Id: rs144505094
ExAC: 5:127670927 G / A
gnomAD v2: 5-127670927-G-A
gnomAD v3: 5-128335235-G-A
gnomAD v4: 5-128335235-G-A
MyVariant Identifiers: chr5:g.127670927G>A (hg19) chr5:g.128335235G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335235G>A , CM000667.2:g.128335235G>A GRCh38
NC_000005.9:g.127670927G>A , CM000667.1:g.127670927G>A GRCh37
NC_000005.8:g.127698826G>A NCBI36
NG_008750.1:g.207809C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.692C>T
ENST00000703785.1:n.773C>T
ENST00000262464.9:c.3908C>T MANE Select ENSP00000262464.4:p.Pro1303Leu
ENST00000262464.8:c.3908C>T ENSP00000262464.4:p.Pro1303Leu
ENST00000507835.5:c.458C>T ENSP00000426839.1:p.Pro153Leu
ENST00000508053.5:c.3908C>T ENSP00000424571.1:p.Pro1303Leu
ENST00000508989.5:c.3809C>T ENSP00000425596.1:p.Pro1270Leu
ENST00000619499.4:c.3905C>T ENSP00000482132.1:p.Pro1302Leu
NM_001999.3:c.3908C>T NP_001990.2:p.Pro1303Leu
XM_017009228.2:c.3755C>T XP_016864717.1:p.Pro1252Leu
NM_001999.4:c.3908C>T MANE Select NP_001990.2:p.Pro1303Leu
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